Canonical Allele Identifier: CA389042806
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23419597-T-C
MyVariant Identifiers: chr14:g.23888806T>C (hg19) chr14:g.23419597T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419597T>C , CM000676.2:g.23419597T>C GRCh38
NC_000014.8:g.23888806T>C , CM000676.1:g.23888806T>C GRCh37
NC_000014.7:g.22958646T>C NCBI36
NG_007884.1:g.21065A>G , LRG_384:g.21065A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3739A>G MANE Select ENSP00000347507.3:p.Lys1247Glu
ENST00000355349.3:c.3739A>G ENSP00000347507.3:p.Lys1247Glu
NM_000257.3:c.3739A>G NP_000248.2:p.Lys1247Glu
XM_017021340.1:c.3739A>G XP_016876829.1:p.Lys1247Glu
NM_000257.4:c.3739A>G MANE Select NP_000248.2:p.Lys1247Glu
Search 100 bp 5'
Search 100 bp 3'