Canonical Allele Identifier: CA2123450320
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs41285542

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422113G>A , CM000676.2:g.23422113G>A GRCh38
NC_000014.8:g.23891322G>A , CM000676.1:g.23891322G>A GRCh37
NC_000014.7:g.22961162G>A NCBI36
NG_007884.1:g.18549C>T , LRG_384:g.18549C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3245+67C>T MANE Select ENSP00000347507.3:n.3245+67C>T
ENST00000355349.3:c.3245+67C>T ENSP00000347507.3:n.3245+67C>T
NM_000257.3:c.3245+67C>T NP_000248.2:n.3245+67C>T
XR_245686.3:n.3351+67C>T
XM_017021340.1:c.3245+67C>T XP_016876829.1:n.3245+67C>T
NM_000257.4:c.3245+67C>T MANE Select NP_000248.2:n.3245+67C>T