Canonical Allele Identifier: CA349149

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 221006
• ClinVar RCV Id: RCV000204961 ; RCV000252675 ; RCV001577340
• dbSNP Id: rs201207627
• ExAC: 7:21818707 T / C
• gnomAD v2: 7-21818707-T-C
• gnomAD v3: 7-21779089-T-C
• gnomAD v4: 7-21779089-T-C
• MyVariant Identifiers: chr7:g.21818707T>C (hg19) ; chr7:g.21779089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21779089T>C , CM000669.2:g.21779089T>C	GRCh38
NC_000007.13:g.21818707T>C , CM000669.1:g.21818707T>C	GRCh37
NC_000007.12:g.21785232T>C	NCBI36
NG_012886.2:g.240875T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.9468T>C MANE Select	ENSP00000475939.1:p.Asp3156=
ENST00000328843.10:c.9489T>C	ENSP00000330671.7:p.Asp3163=
ENST00000409508.7:c.9468T>C	ENSP00000475939.1:p.Asp3156=
ENST00000620169.4:c.9489T>C	ENSP00000481693.1:p.Asp3163=
NM_001277115.1:c.9468T>C	NP_001264044.1:p.Asp3156=
NM_001277115.2:c.9468T>C MANE Select	NP_001264044.1:p.Asp3156=