Canonical Allele Identifier: CA4182487

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257848
• ClinVar RCV Id: RCV000253596 ; RCV000366124 ; RCV003437038
• dbSNP Id: rs72657400
• ExAC: 7:21882252 G / A
• gnomAD v2: 7-21882252-G-A
• gnomAD v3: 7-21842634-G-A
• gnomAD v4: 7-21842634-G-A
• MyVariant Identifiers: chr7:g.21882252G>A (hg19) ; chr7:g.21842634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21842634G>A , CM000669.2:g.21842634G>A	GRCh38
NC_000007.13:g.21882252G>A , CM000669.1:g.21882252G>A	GRCh37
NC_000007.12:g.21848777G>A	NCBI36
NG_012886.2:g.304420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.10782G>A MANE Select	ENSP00000475939.1:p.Pro3594=
ENST00000328843.10:c.10803G>A	ENSP00000330671.7:p.Pro3601=
ENST00000409508.7:c.10782G>A	ENSP00000475939.1:p.Pro3594=
ENST00000620169.4:c.10803G>A	ENSP00000481693.1:p.Pro3601=
NM_001277115.1:c.10782G>A	NP_001264044.1:p.Pro3594=
NM_001277115.2:c.10782G>A MANE Select	NP_001264044.1:p.Pro3594=