Canonical Allele Identifier: CA389035829
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23415231-T-C
COSMIC: COSM416236
MyVariant Identifiers: chr14:g.23884440T>C (hg19) chr14:g.23415231T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415231T>C , CM000676.2:g.23415231T>C GRCh38
NC_000014.8:g.23884440T>C , CM000676.1:g.23884440T>C GRCh37
NC_000014.7:g.22954280T>C NCBI36
NG_007884.1:g.25431A>G , LRG_384:g.25431A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5323A>G MANE Select ENSP00000347507.3:p.Thr1775Ala
ENST00000355349.3:c.5323A>G ENSP00000347507.3:p.Thr1775Ala
NM_000257.3:c.5323A>G NP_000248.2:p.Thr1775Ala
XM_017021340.1:c.5323A>G XP_016876829.1:p.Thr1775Ala
NM_000257.4:c.5323A>G MANE Select NP_000248.2:p.Thr1775Ala
Search 100 bp 5'
Search 100 bp 3'