Canonical Allele Identifier: CA242059

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 195579
• ClinVar RCV Id: RCV000176180 ; RCV000515414 ; RCV001080777 ; RCV004537394
• dbSNP Id: rs72657309
• ExAC: 7:21654880 T / C
• gnomAD v2: 7-21654880-T-C
• gnomAD v3: 7-21615262-T-C
• gnomAD v4: 7-21615262-T-C
• MyVariant Identifiers: chr7:g.21654880T>C (hg19) ; chr7:g.21615262T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21615262T>C , CM000669.2:g.21615262T>C	GRCh38
NC_000007.13:g.21654880T>C , CM000669.1:g.21654880T>C	GRCh37
NC_000007.12:g.21621405T>C	NCBI36
NG_012886.2:g.77048T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4001T>C MANE Select	ENSP00000475939.1:p.Ile1334Thr
ENST00000328843.10:c.4001T>C	ENSP00000330671.7:p.Ile1334Thr
ENST00000409508.7:c.4001T>C	ENSP00000475939.1:p.Ile1334Thr
ENST00000620169.4:c.4001T>C	ENSP00000481693.1:p.Ile1334Thr
NM_001277115.1:c.4001T>C	NP_001264044.1:p.Ile1334Thr
NM_001277115.2:c.4001T>C MANE Select	NP_001264044.1:p.Ile1334Thr