Canonical Allele Identifier: CA4182873

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257857
• ClinVar RCV Id: RCV000252058 ; RCV000391629
• dbSNP Id: rs187489343
• ExAC: 7:21907591 G / A
• gnomAD v2: 7-21907591-G-A
• gnomAD v3: 7-21867973-G-A
• gnomAD v4: 7-21867973-G-A
• MyVariant Identifiers: chr7:g.21907591G>A (hg19) ; chr7:g.21867973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21867973G>A , CM000669.2:g.21867973G>A	GRCh38
NC_000007.13:g.21907591G>A , CM000669.1:g.21907591G>A	GRCh37
NC_000007.12:g.21874116G>A	NCBI36
NG_012886.2:g.329759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.11805G>A MANE Select	ENSP00000475939.1:p.Pro3935=
ENST00000328843.10:c.11826G>A	ENSP00000330671.7:p.Pro3942=
ENST00000409508.7:c.11805G>A	ENSP00000475939.1:p.Pro3935=
ENST00000620169.4:c.11826G>A	ENSP00000481693.1:p.Pro3942=
NM_001277115.1:c.11805G>A	NP_001264044.1:p.Pro3935=
NM_001277115.2:c.11805G>A MANE Select	NP_001264044.1:p.Pro3935=