Canonical Allele Identifier: CA035254
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1127274
ClinVar RCV Id: RCV001459648
dbSNP Id: rs549538540
ExAC: 14:23892843 T / C
gnomAD v2: 14-23892843-T-C
gnomAD v3: 14-23423634-T-C
gnomAD v4: 14-23423634-T-C
MyVariant Identifiers: chr14:g.23892843T>C (hg19) chr14:g.23423634T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423634T>C , CM000676.2:g.23423634T>C GRCh38
NC_000014.8:g.23892843T>C , CM000676.1:g.23892843T>C GRCh37
NC_000014.7:g.22962683T>C NCBI36
NG_007884.1:g.17028A>G , LRG_384:g.17028A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3012A>G MANE Select ENSP00000347507.3:p.Gln1004=
ENST00000355349.3:c.3012A>G ENSP00000347507.3:p.Gln1004=
NM_000257.3:c.3012A>G NP_000248.2:p.Gln1004=
XR_245686.3:n.3118A>G
XM_017021340.1:c.3012A>G XP_016876829.1:p.Gln1004=
NM_000257.4:c.3012A>G MANE Select NP_000248.2:p.Gln1004=
Search 100 bp 5'
Search 100 bp 3'