Canonical Allele Identifier: CA175761

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 163128
• ClinVar RCV Id: RCV000150459 ; RCV000468438 ; RCV003144142 ; RCV004544351
• dbSNP Id: rs191802172
• ExAC: 7:21934537 G / C
• gnomAD v2: 7-21934537-G-C
• gnomAD v3: 7-21894919-G-C
• gnomAD v4: 7-21894919-G-C
• MyVariant Identifiers: chr7:g.21934537G>C (hg19) ; chr7:g.21894919G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21894919G>C , CM000669.2:g.21894919G>C	GRCh38
NC_000007.13:g.21934537G>C , CM000669.1:g.21934537G>C	GRCh37
NC_000007.12:g.21901062G>C	NCBI36
NG_012886.2:g.356705G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12969G>C MANE Select	ENSP00000475939.1:p.Gln4323His
ENST00000328843.10:c.12990G>C	ENSP00000330671.7:p.Gln4330His
ENST00000409508.7:c.12969G>C	ENSP00000475939.1:p.Gln4323His
ENST00000479878.1:n.340G>C
ENST00000620169.4:c.12990G>C	ENSP00000481693.1:p.Gln4330His
NM_001277115.1:c.12969G>C	NP_001264044.1:p.Gln4323His
NM_001277115.2:c.12969G>C MANE Select	NP_001264044.1:p.Gln4323His