Canonical Allele Identifier: CA175745

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 163119
• ClinVar RCV Id: RCV000150450 ; RCV000305467
• dbSNP Id: rs117729990
• ExAC: 7:21856163 G / A
• gnomAD v2: 7-21856163-G-A
• gnomAD v3: 7-21816545-G-A
• gnomAD v4: 7-21816545-G-A
• MyVariant Identifiers: chr7:g.21856163G>A (hg19) ; chr7:g.21816545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21816545G>A , CM000669.2:g.21816545G>A	GRCh38
NC_000007.13:g.21856163G>A , CM000669.1:g.21856163G>A	GRCh37
NC_000007.12:g.21822688G>A	NCBI36
NG_012886.2:g.278331G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.10411G>A MANE Select	ENSP00000475939.1:p.Glu3471Lys
ENST00000328843.10:c.10432G>A	ENSP00000330671.7:p.Glu3478Lys
ENST00000409508.7:c.10411G>A	ENSP00000475939.1:p.Glu3471Lys
ENST00000620169.4:c.10432G>A	ENSP00000481693.1:p.Glu3478Lys
NM_001277115.1:c.10411G>A	NP_001264044.1:p.Glu3471Lys
NM_001277115.2:c.10411G>A MANE Select	NP_001264044.1:p.Glu3471Lys