Canonical Allele Identifier: CA012368
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 181370
ClinVar RCV Id: RCV000158840 RCV001207764
dbSNP Id: rs730880742
MyVariant Identifiers: chr14:g.23894193T>G (hg19) chr14:g.23424984T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424984T>G , CM000676.2:g.23424984T>G GRCh38
NC_000014.8:g.23894193T>G , CM000676.1:g.23894193T>G GRCh37
NC_000014.7:g.22964033T>G NCBI36
NG_007884.1:g.15678A>C , LRG_384:g.15678A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2464A>C MANE Select ENSP00000347507.3:p.Met822Leu
ENST00000355349.3:c.2464A>C ENSP00000347507.3:p.Met822Leu
NM_000257.3:c.2464A>C NP_000248.2:p.Met822Leu
XR_245686.3:n.2570A>C
XM_017021340.1:c.2464A>C XP_016876829.1:p.Met822Leu
NM_000257.4:c.2464A>C MANE Select NP_000248.2:p.Met822Leu
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