Canonical Allele Identifier: CA014162
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42977
ClinVar RCV Id: RCV000035870 RCV000205004 RCV000323984 RCV000346163 RCV000376212 RCV000416237 RCV000758059 RCV001094106 RCV003320069
dbSNP Id: rs45467397
ExAC: 14:23888685 G / A
gnomAD v2: 14-23888685-G-A
gnomAD v3: 14-23419476-G-A
gnomAD v4: 14-23419476-G-A
MyVariant Identifiers: chr14:g.23888685G>A (hg19) chr14:g.23419476G>A (hg38)
PubMed: PMID:29300372
ERepo: CA014162/MONDO:0004994/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419476G>A , CM000676.2:g.23419476G>A GRCh38
NC_000014.8:g.23888685G>A , CM000676.1:g.23888685G>A GRCh37
NC_000014.7:g.22958525G>A NCBI36
NG_007884.1:g.21186C>T , LRG_384:g.21186C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3853+7C>T MANE Select ENSP00000347507.3:n.3853+7C>T
ENST00000355349.3:c.3853+7C>T ENSP00000347507.3:n.3853+7C>T
NM_000257.3:c.3853+7C>T NP_000248.2:n.3853+7C>T
XM_017021340.1:c.3853+7C>T XP_016876829.1:n.3853+7C>T
NM_000257.4:c.3853+7C>T MANE Select NP_000248.2:n.3853+7C>T
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