Canonical Allele Identifier: CA4182178

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257946
• ClinVar RCV Id: RCV000250251 ; RCV000334909
• dbSNP Id: rs200349268
• ExAC: 7:21828873 G / A
• gnomAD v2: 7-21828873-G-A
• gnomAD v3: 7-21789255-G-A
• gnomAD v4: 7-21789255-G-A
• MyVariant Identifiers: chr7:g.21828873G>A (hg19) ; chr7:g.21789255G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21789255G>A , CM000669.2:g.21789255G>A	GRCh38
NC_000007.13:g.21828873G>A , CM000669.1:g.21828873G>A	GRCh37
NC_000007.12:g.21795398G>A	NCBI36
NG_012886.2:g.251041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.9939G>A MANE Select	ENSP00000475939.1:p.Val3313=
ENST00000328843.10:c.9960G>A	ENSP00000330671.7:p.Val3320=
ENST00000409508.7:c.9939G>A	ENSP00000475939.1:p.Val3313=
ENST00000620169.4:c.9960G>A	ENSP00000481693.1:p.Val3320=
NM_001277115.1:c.9939G>A	NP_001264044.1:p.Val3313=
NM_001277115.2:c.9939G>A MANE Select	NP_001264044.1:p.Val3313=