Canonical Allele Identifier: CA013546
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42953
ClinVar RCV Id: RCV001265537 RCV003320065 RCV003407400
dbSNP Id: rs45478699
ExAC: 14:23890217 C / A
gnomAD v2: 14-23890217-C-A
gnomAD v3: 14-23421008-C-A
gnomAD v4: 14-23421008-C-A
MyVariant Identifiers: chr14:g.23890217C>A (hg19) chr14:g.23421008C>A (hg38)
PubMed: PMID:18555187 PMID:19412328 PMID:22337857 PMID:23299917 PMID:23403236 PMID:25031304 PMID:25163546 PMID:25637381 PMID:29300372
ERepo: CA013546/MONDO:0004994/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23421008C>A , CM000676.2:g.23421008C>A GRCh38
NC_000014.8:g.23890217C>A , CM000676.1:g.23890217C>A GRCh37
NC_000014.7:g.22960057C>A NCBI36
NG_007884.1:g.19654G>T , LRG_384:g.19654G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3286G>T MANE Select ENSP00000347507.3:p.Asp1096Tyr
ENST00000355349.3:c.3286G>T ENSP00000347507.3:p.Asp1096Tyr
NM_000257.3:c.3286G>T NP_000248.2:p.Asp1096Tyr
XR_245686.3:n.3394G>T
XM_017021340.1:c.3286G>T XP_016876829.1:p.Asp1096Tyr
NM_000257.4:c.3286G>T MANE Select NP_000248.2:p.Asp1096Tyr
Search 100 bp 5'
Search 100 bp 3'