Canonical Allele Identifier: CA389045112
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23891407A>G (hg19) chr14:g.23422198A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422198A>G , CM000676.2:g.23422198A>G GRCh38
NC_000014.8:g.23891407A>G , CM000676.1:g.23891407A>G GRCh37
NC_000014.7:g.22961247A>G NCBI36
NG_007884.1:g.18464T>C , LRG_384:g.18464T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3227T>C MANE Select ENSP00000347507.3:p.Leu1076Pro
ENST00000355349.3:c.3227T>C ENSP00000347507.3:p.Leu1076Pro
NM_000257.3:c.3227T>C NP_000248.2:p.Leu1076Pro
XR_245686.3:n.3333T>C
XM_017021340.1:c.3227T>C XP_016876829.1:p.Leu1076Pro
NM_000257.4:c.3227T>C MANE Select NP_000248.2:p.Leu1076Pro
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