Canonical Allele Identifier: CA037752
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 454367
ClinVar RCV Id: RCV000536882
dbSNP Id: rs566368210
ExAC: 14:23889257 G / A
gnomAD v2: 14-23889257-G-A
gnomAD v3: 14-23420048-G-A
gnomAD v4: 14-23420048-G-A
MyVariant Identifiers: chr14:g.23889257G>A (hg19) chr14:g.23420048G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420048G>A , CM000676.2:g.23420048G>A GRCh38
NC_000014.8:g.23889257G>A , CM000676.1:g.23889257G>A GRCh37
NC_000014.7:g.22959097G>A NCBI36
NG_007884.1:g.20614C>T , LRG_384:g.20614C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3523C>T MANE Select ENSP00000347507.3:p.Arg1175Trp
ENST00000355349.3:c.3523C>T ENSP00000347507.3:p.Arg1175Trp
NM_000257.3:c.3523C>T NP_000248.2:p.Arg1175Trp
XM_017021340.1:c.3523C>T XP_016876829.1:p.Arg1175Trp
NM_000257.4:c.3523C>T MANE Select NP_000248.2:p.Arg1175Trp
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