Canonical Allele Identifier: CA4182012

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 281471
• ClinVar RCV Id: RCV000394667 ; RCV000538754 ; RCV003144190
• dbSNP Id: rs202224167
• ExAC: 7:21824060 A / C
• gnomAD v2: 7-21824060-A-C
• gnomAD v3: 7-21784442-A-C
• gnomAD v4: 7-21784442-A-C
• MyVariant Identifiers: chr7:g.21824060A>C (hg19) ; chr7:g.21784442A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21784442A>C , CM000669.2:g.21784442A>C	GRCh38
NC_000007.13:g.21824060A>C , CM000669.1:g.21824060A>C	GRCh37
NC_000007.12:g.21790585A>C	NCBI36
NG_012886.2:g.246228A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.9499A>C MANE Select	ENSP00000475939.1:p.Thr3167Pro
ENST00000328843.10:c.9520A>C	ENSP00000330671.7:p.Thr3174Pro
ENST00000409508.7:c.9499A>C	ENSP00000475939.1:p.Thr3167Pro
ENST00000620169.4:c.9520A>C	ENSP00000481693.1:p.Thr3174Pro
NM_001277115.1:c.9499A>C	NP_001264044.1:p.Thr3167Pro
NM_001277115.2:c.9499A>C MANE Select	NP_001264044.1:p.Thr3167Pro