Canonical Allele Identifier: CA039084
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 705141
ClinVar RCV Id: RCV002064811
dbSNP Id: rs567188710
ExAC: 14:23888682 C / G
gnomAD v2: 14-23888682-C-G
gnomAD v3: 14-23419473-C-G
gnomAD v4: 14-23419473-C-G
MyVariant Identifiers: chr14:g.23888682C>G (hg19) chr14:g.23419473C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419473C>G , CM000676.2:g.23419473C>G GRCh38
NC_000014.8:g.23888682C>G , CM000676.1:g.23888682C>G GRCh37
NC_000014.7:g.22958522C>G NCBI36
NG_007884.1:g.21189G>C , LRG_384:g.21189G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3853+10G>C MANE Select ENSP00000347507.3:n.3853+10G>C
ENST00000355349.3:c.3853+10G>C ENSP00000347507.3:n.3853+10G>C
NM_000257.3:c.3853+10G>C NP_000248.2:n.3853+10G>C
XM_017021340.1:c.3853+10G>C XP_016876829.1:n.3853+10G>C
NM_000257.4:c.3853+10G>C MANE Select NP_000248.2:n.3853+10G>C
Search 100 bp 5'
Search 100 bp 3'