Canonical Allele Identifier: CA2123459033
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2810050
ClinVar RCV Id: RCV003749446
dbSNP Id: rs1892078867
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413989C>T , CM000676.2:g.23413989C>T GRCh38
NC_000014.8:g.23883198C>T , CM000676.1:g.23883198C>T GRCh37
NC_000014.7:g.22953038C>T NCBI36
NG_007884.1:g.26673G>A , LRG_384:g.26673G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5655+18G>A MANE Select ENSP00000347507.3:n.5655+18G>A
ENST00000355349.3:c.5655+18G>A ENSP00000347507.3:n.5655+18G>A
NM_000257.3:c.5655+18G>A NP_000248.2:n.5655+18G>A
XM_017021340.1:c.5655+18G>A XP_016876829.1:n.5655+18G>A
NM_000257.4:c.5655+18G>A MANE Select NP_000248.2:n.5655+18G>A
Search 100 bp 5'
Search 100 bp 3'