Canonical Allele Identifier: CA4180530

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410838
• ClinVar RCV Id: RCV000457354
• dbSNP Id: rs201671992
• ExAC: 7:21726835 G / T
• gnomAD v2: 7-21726835-G-T
• gnomAD v3: 7-21687217-G-T
• gnomAD v4: 7-21687217-G-T
• MyVariant Identifiers: chr7:g.21726835G>T (hg19) ; chr7:g.21687217G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21687217G>T , CM000669.2:g.21687217G>T	GRCh38
NC_000007.13:g.21726835G>T , CM000669.1:g.21726835G>T	GRCh37
NC_000007.12:g.21693360G>T	NCBI36
NG_012886.2:g.149003G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.5740G>T MANE Select	ENSP00000475939.1:p.Val1914Phe
ENST00000328843.10:c.5761G>T	ENSP00000330671.7:p.Val1921Phe
ENST00000409508.7:c.5740G>T	ENSP00000475939.1:p.Val1914Phe
ENST00000620169.4:c.5761G>T	ENSP00000481693.1:p.Val1921Phe
NM_001277115.1:c.5740G>T	NP_001264044.1:p.Val1914Phe
NM_001277115.2:c.5740G>T MANE Select	NP_001264044.1:p.Val1914Phe