Canonical Allele Identifier: CA485624962
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 518049
ClinVar RCV Id: RCV000612174 RCV003117424
dbSNP Id: rs1432051238
gnomAD v2: 14-23898185-G-A
gnomAD v3: 14-23428976-G-A
gnomAD v4: 14-23428976-G-A
MyVariant Identifiers: chr14:g.23898185G>A (hg19) chr14:g.23428976G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428976G>A , CM000676.2:g.23428976G>A GRCh38
NC_000014.8:g.23898185G>A , CM000676.1:g.23898185G>A GRCh37
NC_000014.7:g.22968025G>A NCBI36
NG_007884.1:g.11686C>T , LRG_384:g.11686C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1386C>T MANE Select ENSP00000347507.3:p.Ile462=
ENST00000355349.3:c.1386C>T ENSP00000347507.3:p.Ile462=
NM_000257.3:c.1386C>T NP_000248.2:p.Ile462=
XR_245686.3:n.1492C>T
XM_017021340.1:c.1386C>T XP_016876829.1:p.Ile462=
NM_000257.4:c.1386C>T MANE Select NP_000248.2:p.Ile462=
Search 100 bp 5'
Search 100 bp 3'