Canonical Allele Identifier: CA4182362

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 2141678
• ClinVar RCV Id: RCV003058670
• dbSNP Id: rs578086869
• ExAC: 7:21856183 A / C
• gnomAD v2: 7-21856183-A-C
• gnomAD v3: 7-21816565-A-C
• gnomAD v4: 7-21816565-A-C
• MyVariant Identifiers: chr7:g.21856183A>C (hg19) ; chr7:g.21816565A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21816565A>C , CM000669.2:g.21816565A>C	GRCh38
NC_000007.13:g.21856183A>C , CM000669.1:g.21856183A>C	GRCh37
NC_000007.12:g.21822708A>C	NCBI36
NG_012886.2:g.278351A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.10431A>C MANE Select	ENSP00000475939.1:p.Arg3477Ser
ENST00000328843.10:c.10452A>C	ENSP00000330671.7:p.Arg3484Ser
ENST00000409508.7:c.10431A>C	ENSP00000475939.1:p.Arg3477Ser
ENST00000620169.4:c.10452A>C	ENSP00000481693.1:p.Arg3484Ser
NM_001277115.1:c.10431A>C	NP_001264044.1:p.Arg3477Ser
NM_001277115.2:c.10431A>C MANE Select	NP_001264044.1:p.Arg3477Ser