Canonical Allele Identifier: CA2624232645
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23420827-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420827G>A , CM000676.2:g.23420827G>A GRCh38
NC_000014.8:g.23890036G>A , CM000676.1:g.23890036G>A GRCh37
NC_000014.7:g.22959876G>A NCBI36
NG_007884.1:g.19835C>T , LRG_384:g.19835C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3336+131C>T MANE Select ENSP00000347507.3:n.3336+131C>T
ENST00000355349.3:c.3336+131C>T ENSP00000347507.3:n.3336+131C>T
NM_000257.3:c.3336+131C>T NP_000248.2:n.3336+131C>T
XR_245686.3:n.3444+131C>T
XM_017021340.1:c.3336+131C>T XP_016876829.1:n.3336+131C>T
NM_000257.4:c.3336+131C>T MANE Select NP_000248.2:n.3336+131C>T
Search 100 bp 5'
Search 100 bp 3'