Canonical Allele Identifier: CA1139663385

Gene: MYH7

Linked Data

• ClinVar Variation Id: 915796
• ClinVar RCV Id: RCV001171206
• dbSNP Id: rs1892426856
• gnomAD v4: 14-23420298-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23420298T>G , CM000676.2:g.23420298T>G	GRCh38
NC_000014.8:g.23889507T>G , CM000676.1:g.23889507T>G	GRCh37
NC_000014.7:g.22959347T>G	NCBI36
NG_007884.1:g.20364A>C , LRG_384:g.20364A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3337-64A>C MANE Select	ENSP00000347507.3:n.3337-64A>C
ENST00000355349.3:c.3337-64A>C	ENSP00000347507.3:n.3337-64A>C
NM_000257.3:c.3337-64A>C	NP_000248.2:n.3337-64A>C
XR_245686.3:n.3445-64A>C
XM_017021340.1:c.3337-64A>C	XP_016876829.1:n.3337-64A>C
NM_000257.4:c.3337-64A>C MANE Select	NP_000248.2:n.3337-64A>C