Canonical Allele Identifier: CA013590
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42956
ClinVar RCV Id: RCV000035849 RCV000143924 RCV000198751 RCV000202937 RCV000251461 RCV000308973 RCV000305277 RCV000335651 RCV000758032 RCV001262908 RCV001357390 RCV003320066
dbSNP Id: rs45504498
ExAC: 14:23889445 T / TG
gnomAD v2: 14-23889445-T-TG
gnomAD v3: 14-23420236-T-TG
gnomAD v4: 14-23420236-T-TG
MyVariant Identifiers: chr14:g.23889446dupG (hg19) chr14:g.23889447_23889448insG (hg19) chr14:g.23889445_23889446insG (hg19) chr14:g.23420237dupG (hg38) chr14:g.23420238_23420239insG (hg38) chr14:g.23420236_23420237insG (hg38)
PubMed: PMID:20474083 PMID:23233322 PMID:29300372
ERepo: CA013590/MONDO:0004994/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420238dup , CM000676.2:g.23420238dup GRCh38
NC_000014.8:g.23889447dup , CM000676.1:g.23889447dup GRCh37
NC_000014.7:g.22959287dup NCBI36
NG_007884.1:g.20425dup , LRG_384:g.20425dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3337-3dup MANE Select ENSP00000347507.3:n.3337-3dup
ENST00000355349.3:c.3337-3dup ENSP00000347507.3:n.3337-3dup
NM_000257.3:c.3337-3dup NP_000248.2:n.3337-3dup
XR_245686.3:n.3445-3dup
XM_017021340.1:c.3337-3dup XP_016876829.1:n.3337-3dup
NM_000257.4:c.3337-3dup MANE Select NP_000248.2:n.3337-3dup
Search 100 bp 5'
Search 100 bp 3'