Canonical Allele Identifier: CA704271386
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1178616665
gnomAD v3: 14-23434065-T-C
gnomAD v4: 14-23434065-T-C
MyVariant Identifiers: chr14:g.23903274T>C (hg19) chr14:g.23434065T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434065T>C , CM000676.2:g.23434065T>C GRCh38
NC_000014.8:g.23903274T>C , CM000676.1:g.23903274T>C GRCh37
NC_000014.7:g.22973114T>C NCBI36
NG_007884.1:g.6597A>G , LRG_384:g.6597A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+129A>G MANE Select ENSP00000347507.3:n.-9+129A>G
ENST00000355349.3:c.-9+129A>G ENSP00000347507.3:n.-9+129A>G
NM_000257.3:c.-9+129A>G NP_000248.2:n.-9+129A>G
XR_245686.3:n.98+129A>G
XM_017021340.1:c.-8-325A>G XP_016876829.1:n.-8-325A>G
NM_000257.4:c.-9+129A>G MANE Select NP_000248.2:n.-9+129A>G
Search 100 bp 5'
Search 100 bp 3'