Canonical Allele Identifier: CA2123448059
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1892439258

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420668T>C , CM000676.2:g.23420668T>C GRCh38
NC_000014.8:g.23889877T>C , CM000676.1:g.23889877T>C GRCh37
NC_000014.7:g.22959717T>C NCBI36
NG_007884.1:g.19994A>G , LRG_384:g.19994A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3336+290A>G MANE Select ENSP00000347507.3:n.3336+290A>G
ENST00000355349.3:c.3336+290A>G ENSP00000347507.3:n.3336+290A>G
NM_000257.3:c.3336+290A>G NP_000248.2:n.3336+290A>G
XR_245686.3:n.3444+290A>G
XM_017021340.1:c.3336+290A>G XP_016876829.1:n.3336+290A>G
NM_000257.4:c.3336+290A>G MANE Select NP_000248.2:n.3336+290A>G