Canonical Allele Identifier: CA4182175

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257945
• ClinVar RCV Id: RCV000253709 ; RCV000280039
• dbSNP Id: rs146815254
• ExAC: 7:21828852 T / C
• gnomAD v2: 7-21828852-T-C
• gnomAD v3: 7-21789234-T-C
• gnomAD v4: 7-21789234-T-C
• MyVariant Identifiers: chr7:g.21828852T>C (hg19) ; chr7:g.21789234T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21789234T>C , CM000669.2:g.21789234T>C	GRCh38
NC_000007.13:g.21828852T>C , CM000669.1:g.21828852T>C	GRCh37
NC_000007.12:g.21795377T>C	NCBI36
NG_012886.2:g.251020T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.9925-7T>C MANE Select	ENSP00000475939.1:n.9925-7T>C
ENST00000328843.10:c.9946-7T>C	ENSP00000330671.7:n.9946-7T>C
ENST00000409508.7:c.9925-7T>C	ENSP00000475939.1:n.9925-7T>C
ENST00000620169.4:c.9946-7T>C	ENSP00000481693.1:n.9946-7T>C
NM_001277115.1:c.9925-7T>C	NP_001264044.1:n.9925-7T>C
NM_001277115.2:c.9925-7T>C MANE Select	NP_001264044.1:n.9925-7T>C