Canonical Allele Identifier: CA012524
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42911
ClinVar RCV Id: RCV000035800 RCV000459003 RCV000758022 RCV001719726
dbSNP Id: rs45560638
ExAC: 14:23894143 C / T
gnomAD v2: 14-23894143-C-T
gnomAD v3: 14-23424934-C-T
gnomAD v4: 14-23424934-C-T
MyVariant Identifiers: chr14:g.23894143C>T (hg19) chr14:g.23424934C>T (hg38)
PubMed: PMID:29300372
ERepo: CA012524/MONDO:0004994/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424934C>T , CM000676.2:g.23424934C>T GRCh38
NC_000014.8:g.23894143C>T , CM000676.1:g.23894143C>T GRCh37
NC_000014.7:g.22963983C>T NCBI36
NG_007884.1:g.15728G>A , LRG_384:g.15728G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2514G>A MANE Select ENSP00000347507.3:p.Pro838=
ENST00000355349.3:c.2514G>A ENSP00000347507.3:p.Pro838=
NM_000257.3:c.2514G>A NP_000248.2:p.Pro838=
XR_245686.3:n.2620G>A
XM_017021340.1:c.2514G>A XP_016876829.1:p.Pro838=
NM_000257.4:c.2514G>A MANE Select NP_000248.2:p.Pro838=
Search 100 bp 5'
Search 100 bp 3'