Canonical Allele Identifier: CA4182980

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 227317
• ClinVar RCV Id: RCV000215582 ; RCV000536515 ; RCV001162552
• dbSNP Id: rs142372794
• ExAC: 7:21913099 G / A
• gnomAD v2: 7-21913099-G-A
• gnomAD v3: 7-21873481-G-A
• gnomAD v4: 7-21873481-G-A
• MyVariant Identifiers: chr7:g.21913099G>A (hg19) ; chr7:g.21873481G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21873481G>A , CM000669.2:g.21873481G>A	GRCh38
NC_000007.13:g.21913099G>A , CM000669.1:g.21913099G>A	GRCh37
NC_000007.12:g.21879624G>A	NCBI36
NG_012886.2:g.335267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12175G>A MANE Select	ENSP00000475939.1:p.Ala4059Thr
ENST00000328843.10:c.12196G>A	ENSP00000330671.7:p.Ala4066Thr
ENST00000409508.7:c.12175G>A	ENSP00000475939.1:p.Ala4059Thr
ENST00000620169.4:c.12196G>A	ENSP00000481693.1:p.Ala4066Thr
NM_001277115.1:c.12175G>A	NP_001264044.1:p.Ala4059Thr
NM_001277115.2:c.12175G>A MANE Select	NP_001264044.1:p.Ala4059Thr