Canonical Allele Identifier: CA041354
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 922961
ClinVar RCV Id: RCV001183340 RCV001471900
dbSNP Id: rs3729821
ExAC: 14:23886826 C / G
gnomAD v2: 14-23886826-C-G
gnomAD v4: 14-23417617-C-G
MyVariant Identifiers: chr14:g.23886826C>G (hg19) chr14:g.23417617C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417617C>G , CM000676.2:g.23417617C>G GRCh38
NC_000014.8:g.23886826C>G , CM000676.1:g.23886826C>G GRCh37
NC_000014.7:g.22956666C>G NCBI36
NG_007884.1:g.23045G>C , LRG_384:g.23045G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4239G>C MANE Select ENSP00000347507.3:p.Ser1413=
ENST00000355349.3:c.4239G>C ENSP00000347507.3:p.Ser1413=
NM_000257.3:c.4239G>C NP_000248.2:p.Ser1413=
XM_017021340.1:c.4239G>C XP_016876829.1:p.Ser1413=
NM_000257.4:c.4239G>C MANE Select NP_000248.2:p.Ser1413=
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