Canonical Allele Identifier: CA2624255303
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23434054-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434054C>T , CM000676.2:g.23434054C>T GRCh38
NC_000014.8:g.23903263C>T , CM000676.1:g.23903263C>T GRCh37
NC_000014.7:g.22973103C>T NCBI36
NG_007884.1:g.6608G>A , LRG_384:g.6608G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+140G>A MANE Select ENSP00000347507.3:n.-9+140G>A
ENST00000355349.3:c.-9+140G>A ENSP00000347507.3:n.-9+140G>A
NM_000257.3:c.-9+140G>A NP_000248.2:n.-9+140G>A
XR_245686.3:n.98+140G>A
XM_017021340.1:c.-8-314G>A XP_016876829.1:n.-8-314G>A
NM_000257.4:c.-9+140G>A MANE Select NP_000248.2:n.-9+140G>A
Search 100 bp 5'
Search 100 bp 3'