Canonical Allele Identifier: CA034695
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs762059829
ExAC: 14:23893087 G / A
gnomAD v2: 14-23893087-G-A
gnomAD v3: 14-23423878-G-A
gnomAD v4: 14-23423878-G-A
MyVariant Identifiers: chr14:g.23893087G>A (hg19) chr14:g.23423878G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423878G>A , CM000676.2:g.23423878G>A GRCh38
NC_000014.8:g.23893087G>A , CM000676.1:g.23893087G>A GRCh37
NC_000014.7:g.22962927G>A NCBI36
NG_007884.1:g.16784C>T , LRG_384:g.16784C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2922+29C>T MANE Select ENSP00000347507.3:n.2922+29C>T
ENST00000355349.3:c.2922+29C>T ENSP00000347507.3:n.2922+29C>T
NM_000257.3:c.2922+29C>T NP_000248.2:n.2922+29C>T
XR_245686.3:n.3028+29C>T
XM_017021340.1:c.2922+29C>T XP_016876829.1:n.2922+29C>T
NM_000257.4:c.2922+29C>T MANE Select NP_000248.2:n.2922+29C>T
Search 100 bp 5'
Search 100 bp 3'