Canonical Allele Identifier: CA389046295
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23892862G>T (hg19) chr14:g.23423653G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423653G>T , CM000676.2:g.23423653G>T GRCh38
NC_000014.8:g.23892862G>T , CM000676.1:g.23892862G>T GRCh37
NC_000014.7:g.22962702G>T NCBI36
NG_007884.1:g.17009C>A , LRG_384:g.17009C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2993C>A MANE Select ENSP00000347507.3:p.Ala998Asp
ENST00000355349.3:c.2993C>A ENSP00000347507.3:p.Ala998Asp
NM_000257.3:c.2993C>A NP_000248.2:p.Ala998Asp
XR_245686.3:n.3099C>A
XM_017021340.1:c.2993C>A XP_016876829.1:p.Ala998Asp
NM_000257.4:c.2993C>A MANE Select NP_000248.2:p.Ala998Asp
Search 100 bp 5'
Search 100 bp 3'