Canonical Allele Identifier: CA4182114

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 238946
• ClinVar RCV Id: RCV000229707 ; RCV000764703 ; RCV002291605
• dbSNP Id: rs201944089
• ExAC: 7:21827060 G / C
• gnomAD v2: 7-21827060-G-C
• gnomAD v3: 7-21787442-G-C
• gnomAD v4: 7-21787442-G-C
• MyVariant Identifiers: chr7:g.21827060G>C (hg19) ; chr7:g.21787442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21787442G>C , CM000669.2:g.21787442G>C	GRCh38
NC_000007.13:g.21827060G>C , CM000669.1:g.21827060G>C	GRCh37
NC_000007.12:g.21793585G>C	NCBI36
NG_012886.2:g.249228G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.9783G>C MANE Select	ENSP00000475939.1:p.Glu3261Asp
ENST00000328843.10:c.9804G>C	ENSP00000330671.7:p.Glu3268Asp
ENST00000409508.7:c.9783G>C	ENSP00000475939.1:p.Glu3261Asp
ENST00000620169.4:c.9804G>C	ENSP00000481693.1:p.Glu3268Asp
NM_001277115.1:c.9783G>C	NP_001264044.1:p.Glu3261Asp
NM_001277115.2:c.9783G>C MANE Select	NP_001264044.1:p.Glu3261Asp