Canonical Allele Identifier: CA4181262

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359652
• ClinVar RCV Id: RCV000284216 ; RCV002504178 ; RCV002264932
• dbSNP Id: rs141807661
• ExAC: 7:21775370 T / C
• gnomAD v2: 7-21775370-T-C
• gnomAD v3: 7-21735752-T-C
• gnomAD v4: 7-21735752-T-C
• MyVariant Identifiers: chr7:g.21775370T>C (hg19) ; chr7:g.21735752T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21735752T>C , CM000669.2:g.21735752T>C	GRCh38
NC_000007.13:g.21775370T>C , CM000669.1:g.21775370T>C	GRCh37
NC_000007.12:g.21741895T>C	NCBI36
NG_012886.2:g.197538T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.7553T>C MANE Select	ENSP00000475939.1:p.Val2518Ala
ENST00000328843.10:c.7574T>C	ENSP00000330671.7:p.Val2525Ala
ENST00000409508.7:c.7553T>C	ENSP00000475939.1:p.Val2518Ala
ENST00000605912.1:c.113T>C	ENSP00000476068.1:p.Val38Ala
ENST00000620169.4:c.7574T>C	ENSP00000481693.1:p.Val2525Ala
NM_001277115.1:c.7553T>C	NP_001264044.1:p.Val2518Ala
NM_001277115.2:c.7553T>C MANE Select	NP_001264044.1:p.Val2518Ala