Canonical Allele Identifier: CA015931
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 43061
ClinVar RCV Id: RCV000035956 RCV000619149 RCV001525686 RCV002054577
dbSNP Id: rs397516243
ExAC: 14:23901083 G / A
gnomAD v2: 14-23901083-G-A
gnomAD v4: 14-23431874-G-A
MyVariant Identifiers: chr14:g.23901083G>A (hg19) chr14:g.23431874G>A (hg38)
PubMed: PMID:18506004 PMID:24503780
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431874G>A , CM000676.2:g.23431874G>A GRCh38
NC_000014.8:g.23901083G>A , CM000676.1:g.23901083G>A GRCh37
NC_000014.7:g.22970923G>A NCBI36
NG_007884.1:g.8788C>T , LRG_384:g.8788C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.531-5C>T MANE Select ENSP00000347507.3:n.531-5C>T
ENST00000355349.3:c.531-5C>T ENSP00000347507.3:n.531-5C>T
NM_000257.3:c.531-5C>T NP_000248.2:n.531-5C>T
XR_245686.3:n.637-5C>T
XM_017021340.1:c.531-5C>T XP_016876829.1:n.531-5C>T
NM_000257.4:c.531-5C>T MANE Select NP_000248.2:n.531-5C>T
Search 100 bp 5'
Search 100 bp 3'