Canonical Allele Identifier: CA013294
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 181293
ClinVar RCV Id: RCV000158720 RCV001525375 RCV001366152 RCV004019920
dbSNP Id: rs730880826
ExAC: 14:23902913 C / G
gnomAD v2: 14-23902913-C-G
gnomAD v3: 14-23433704-C-G
gnomAD v4: 14-23433704-C-G
MyVariant Identifiers: chr14:g.23902913C>G (hg19) chr14:g.23433704C>G (hg38)
ERepo: CA013294/MONDO:0004994/002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433704C>G , CM000676.2:g.23433704C>G GRCh38
NC_000014.8:g.23902913C>G , CM000676.1:g.23902913C>G GRCh37
NC_000014.7:g.22972753C>G NCBI36
NG_007884.1:g.6958G>C , LRG_384:g.6958G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.29G>C MANE Select ENSP00000347507.3:p.Gly10Ala
ENST00000355349.3:c.29G>C ENSP00000347507.3:p.Gly10Ala
NM_000257.3:c.29G>C NP_000248.2:p.Gly10Ala
XR_245686.3:n.135G>C
XM_017021340.1:c.29G>C XP_016876829.1:p.Gly10Ala
NM_000257.4:c.29G>C MANE Select NP_000248.2:p.Gly10Ala
Search 100 bp 5'
Search 100 bp 3'