Canonical Allele Identifier: CA034852
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs749009332
ExAC: 14:23892967 A / T
gnomAD v2: 14-23892967-A-T
gnomAD v4: 14-23423758-A-T
MyVariant Identifiers: chr14:g.23892967A>T (hg19) chr14:g.23423758A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423758A>T , CM000676.2:g.23423758A>T GRCh38
NC_000014.8:g.23892967A>T , CM000676.1:g.23892967A>T GRCh37
NC_000014.7:g.22962807A>T NCBI36
NG_007884.1:g.16904T>A , LRG_384:g.16904T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2923-35T>A MANE Select ENSP00000347507.3:n.2923-35T>A
ENST00000355349.3:c.2923-35T>A ENSP00000347507.3:n.2923-35T>A
NM_000257.3:c.2923-35T>A NP_000248.2:n.2923-35T>A
XR_245686.3:n.3029-35T>A
XM_017021340.1:c.2923-35T>A XP_016876829.1:n.2923-35T>A
NM_000257.4:c.2923-35T>A MANE Select NP_000248.2:n.2923-35T>A
Search 100 bp 5'
Search 100 bp 3'