Canonical Allele Identifier: CA4180855

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410873
• ClinVar RCV Id: RCV000471454
• dbSNP Id: rs770279400
• ExAC: 7:21745136 C / T
• gnomAD v2: 7-21745136-C-T
• gnomAD v3: 7-21705518-C-T
• gnomAD v4: 7-21705518-C-T
• MyVariant Identifiers: chr7:g.21745136C>T (hg19) ; chr7:g.21705518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21705518C>T , CM000669.2:g.21705518C>T	GRCh38
NC_000007.13:g.21745136C>T , CM000669.1:g.21745136C>T	GRCh37
NC_000007.12:g.21711661C>T	NCBI36
NG_012886.2:g.167304C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6527C>T MANE Select	ENSP00000475939.1:p.Ala2176Val
ENST00000328843.10:c.6548C>T	ENSP00000330671.7:p.Ala2183Val
ENST00000409508.7:c.6527C>T	ENSP00000475939.1:p.Ala2176Val
ENST00000620169.4:c.6548C>T	ENSP00000481693.1:p.Ala2183Val
NM_001277115.1:c.6527C>T	NP_001264044.1:p.Ala2176Val
NM_001277115.2:c.6527C>T MANE Select	NP_001264044.1:p.Ala2176Val