Canonical Allele Identifier: CA2729046817
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs2138653012

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419741G>C , CM000676.2:g.23419741G>C GRCh38
NC_000014.8:g.23888950G>C , CM000676.1:g.23888950G>C GRCh37
NC_000014.7:g.22958790G>C NCBI36
NG_007884.1:g.20921C>G , LRG_384:g.20921C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3726+104C>G MANE Select ENSP00000347507.3:n.3726+104C>G
ENST00000355349.3:c.3726+104C>G ENSP00000347507.3:n.3726+104C>G
NM_000257.3:c.3726+104C>G NP_000248.2:n.3726+104C>G
XM_017021340.1:c.3726+104C>G XP_016876829.1:n.3726+104C>G
NM_000257.4:c.3726+104C>G MANE Select NP_000248.2:n.3726+104C>G