Canonical Allele Identifier: CA046739
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 507217
ClinVar RCV Id: RCV000601552 RCV000629155 RCV001181640 RCV002350450 RCV003424172
dbSNP Id: rs142844109
ExAC: 14:23884342 G / T
gnomAD v2: 14-23884342-G-T
gnomAD v3: 14-23415133-G-T
gnomAD v4: 14-23415133-G-T
MyVariant Identifiers: chr14:g.23884342G>T (hg19) chr14:g.23415133G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415133G>T , CM000676.2:g.23415133G>T GRCh38
NC_000014.8:g.23884342G>T , CM000676.1:g.23884342G>T GRCh37
NC_000014.7:g.22954182G>T NCBI36
NG_007884.1:g.25529C>A , LRG_384:g.25529C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5421C>A MANE Select ENSP00000347507.3:p.Gly1807=
ENST00000355349.3:c.5421C>A ENSP00000347507.3:p.Gly1807=
NM_000257.3:c.5421C>A NP_000248.2:p.Gly1807=
XM_017021340.1:c.5421C>A XP_016876829.1:p.Gly1807=
NM_000257.4:c.5421C>A MANE Select NP_000248.2:p.Gly1807=
Search 100 bp 5'
Search 100 bp 3'