Canonical Allele Identifier: CA4181244

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410846
• ClinVar RCV Id: RCV000468903 ; RCV001764434 ; RCV004529599
• dbSNP Id: rs369438218
• ExAC: 7:21775289 G / A
• gnomAD v2: 7-21775289-G-A
• gnomAD v3: 7-21735671-G-A
• gnomAD v4: 7-21735671-G-A
• MyVariant Identifiers: chr7:g.21775289G>A (hg19) ; chr7:g.21735671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21735671G>A , CM000669.2:g.21735671G>A	GRCh38
NC_000007.13:g.21775289G>A , CM000669.1:g.21775289G>A	GRCh37
NC_000007.12:g.21741814G>A	NCBI36
NG_012886.2:g.197457G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.7472G>A MANE Select	ENSP00000475939.1:p.Arg2491His
ENST00000328843.10:c.7493G>A	ENSP00000330671.7:p.Arg2498His
ENST00000409508.7:c.7472G>A	ENSP00000475939.1:p.Arg2491His
ENST00000605912.1:c.32G>A	ENSP00000476068.1:p.Arg11His
ENST00000620169.4:c.7493G>A	ENSP00000481693.1:p.Arg2498His
NM_001277115.1:c.7472G>A	NP_001264044.1:p.Arg2491His
NM_001277115.2:c.7472G>A MANE Select	NP_001264044.1:p.Arg2491His