Canonical Allele Identifier: CA485766688
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1096104
ClinVar RCV Id: RCV001417239
dbSNP Id: rs201576345
gnomAD v4: 14-23419968-G-A
MyVariant Identifiers: chr14:g.23889177G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419968G>A , CM000676.2:g.23419968G>A GRCh38
NC_000014.8:g.23889177G>A , CM000676.1:g.23889177G>A GRCh37
NC_000014.7:g.22959017G>A NCBI36
NG_007884.1:g.20694C>T , LRG_384:g.20694C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3603C>T MANE Select ENSP00000347507.3:p.Ala1201=
ENST00000355349.3:c.3603C>T ENSP00000347507.3:p.Ala1201=
NM_000257.3:c.3603C>T NP_000248.2:p.Ala1201=
XM_017021340.1:c.3603C>T XP_016876829.1:p.Ala1201=
NM_000257.4:c.3603C>T MANE Select NP_000248.2:p.Ala1201=
Search 100 bp 5'
Search 100 bp 3'