Canonical Allele Identifier: CA485617834
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 525066
ClinVar RCV Id: RCV000629063 RCV001805230
dbSNP Id: rs1555336760
MyVariant Identifiers: chr14:g.23886808G>A (hg19) chr14:g.23417599G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417599G>A , CM000676.2:g.23417599G>A GRCh38
NC_000014.8:g.23886808G>A , CM000676.1:g.23886808G>A GRCh37
NC_000014.7:g.22956648G>A NCBI36
NG_007884.1:g.23063C>T , LRG_384:g.23063C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4257C>T MANE Select ENSP00000347507.3:p.His1419=
ENST00000355349.3:c.4257C>T ENSP00000347507.3:p.His1419=
NM_000257.3:c.4257C>T NP_000248.2:p.His1419=
XM_017021340.1:c.4257C>T XP_016876829.1:p.His1419=
NM_000257.4:c.4257C>T MANE Select NP_000248.2:p.His1419=
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