Canonical Allele Identifier: CA4181635

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359657
• ClinVar RCV Id: RCV000321005 ; RCV003114514 ; RCV004530451 ; RCV003437125
• dbSNP Id: rs199789835
• ExAC: 7:21788208 A / G
• gnomAD v2: 7-21788208-A-G
• gnomAD v3: 7-21748590-A-G
• gnomAD v4: 7-21748590-A-G
• MyVariant Identifiers: chr7:g.21788208A>G (hg19) ; chr7:g.21748590A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21748590A>G , CM000669.2:g.21748590A>G	GRCh38
NC_000007.13:g.21788208A>G , CM000669.1:g.21788208A>G	GRCh37
NC_000007.12:g.21754733A>G	NCBI36
NG_012886.2:g.210376A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.8521A>G MANE Select	ENSP00000475939.1:p.Ser2841Gly
ENST00000328843.10:c.8542A>G	ENSP00000330671.7:p.Ser2848Gly
ENST00000409508.7:c.8521A>G	ENSP00000475939.1:p.Ser2841Gly
ENST00000620169.4:c.8542A>G	ENSP00000481693.1:p.Ser2848Gly
NM_001277115.1:c.8521A>G	NP_001264044.1:p.Ser2841Gly
NM_001277115.2:c.8521A>G MANE Select	NP_001264044.1:p.Ser2841Gly