Canonical Allele Identifier: CA4180791

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410849
• ClinVar RCV Id: RCV000470695 ; RCV000998772 ; RCV003114587
• dbSNP Id: rs72657342
• ExAC: 7:21744130 G / A
• gnomAD v2: 7-21744130-G-A
• gnomAD v3: 7-21704512-G-A
• gnomAD v4: 7-21704512-G-A
• MyVariant Identifiers: chr7:g.21744130G>A (hg19) ; chr7:g.21704512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21704512G>A , CM000669.2:g.21704512G>A	GRCh38
NC_000007.13:g.21744130G>A , CM000669.1:g.21744130G>A	GRCh37
NC_000007.12:g.21710655G>A	NCBI36
NG_012886.2:g.166298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6352G>A MANE Select	ENSP00000475939.1:p.Gly2118Ser
ENST00000328843.10:c.6373G>A	ENSP00000330671.7:p.Gly2125Ser
ENST00000409508.7:c.6352G>A	ENSP00000475939.1:p.Gly2118Ser
ENST00000620169.4:c.6373G>A	ENSP00000481693.1:p.Gly2125Ser
NM_001277115.1:c.6352G>A	NP_001264044.1:p.Gly2118Ser
NM_001277115.2:c.6352G>A MANE Select	NP_001264044.1:p.Gly2118Ser