Canonical Allele Identifier: CA015335
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 43038
ClinVar RCV Id: RCV000035932 RCV000230355 RCV000277881 RCV000302124 RCV000353891 RCV000757527 RCV000758019 RCV001094131 RCV003320082
dbSNP Id: rs45500700
ExAC: 14:23901870 G / A
gnomAD v2: 14-23901870-G-A
gnomAD v3: 14-23432661-G-A
gnomAD v4: 14-23432661-G-A
COSMIC: COSM1258467
MyVariant Identifiers: chr14:g.23901870G>A (hg19) chr14:g.23432661G>A (hg38)
PubMed: PMID:29300372
ERepo: CA015335/MONDO:0004994/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23432661G>A , CM000676.2:g.23432661G>A GRCh38
NC_000014.8:g.23901870G>A , CM000676.1:g.23901870G>A GRCh37
NC_000014.7:g.22971710G>A NCBI36
NG_007884.1:g.8001C>T , LRG_384:g.8001C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.480C>T MANE Select ENSP00000347507.3:p.Asn160=
ENST00000355349.3:c.480C>T ENSP00000347507.3:p.Asn160=
NM_000257.3:c.480C>T NP_000248.2:p.Asn160=
XR_245686.3:n.586C>T
XM_017021340.1:c.480C>T XP_016876829.1:p.Asn160=
NM_000257.4:c.480C>T MANE Select NP_000248.2:p.Asn160=
Search 100 bp 5'
Search 100 bp 3'