Canonical Allele Identifier: CA4180777

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 238928
• ClinVar RCV Id: RCV000229432 ; RCV000657850
• dbSNP Id: rs201618995
• ExAC: 7:21744080 A / G
• gnomAD v2: 7-21744080-A-G
• gnomAD v3: 7-21704462-A-G
• gnomAD v4: 7-21704462-A-G
• MyVariant Identifiers: chr7:g.21744080A>G (hg19) ; chr7:g.21704462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21704462A>G , CM000669.2:g.21704462A>G	GRCh38
NC_000007.13:g.21744080A>G , CM000669.1:g.21744080A>G	GRCh37
NC_000007.12:g.21710605A>G	NCBI36
NG_012886.2:g.166248A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.6302A>G MANE Select	ENSP00000475939.1:p.Asn2101Ser
ENST00000328843.10:c.6323A>G	ENSP00000330671.7:p.Asn2108Ser
ENST00000409508.7:c.6302A>G	ENSP00000475939.1:p.Asn2101Ser
ENST00000620169.4:c.6323A>G	ENSP00000481693.1:p.Asn2108Ser
NM_001277115.1:c.6302A>G	NP_001264044.1:p.Asn2101Ser
NM_001277115.2:c.6302A>G MANE Select	NP_001264044.1:p.Asn2101Ser