Canonical Allele Identifier: CA4183033

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 1755598
• ClinVar RCV Id: RCV002369566
• dbSNP Id: rs763870754
• ExAC: 7:21920441 A / T
• gnomAD v2: 7-21920441-A-T
• gnomAD v3: 7-21880823-A-T
• gnomAD v4: 7-21880823-A-T
• MyVariant Identifiers: chr7:g.21920441A>T (hg19) ; chr7:g.21880823A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21880823A>T , CM000669.2:g.21880823A>T	GRCh38
NC_000007.13:g.21920441A>T , CM000669.1:g.21920441A>T	GRCh37
NC_000007.12:g.21886966A>T	NCBI36
NG_012886.2:g.342609A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12317A>T MANE Select	ENSP00000475939.1:p.Tyr4106Phe
ENST00000328843.10:c.12338A>T	ENSP00000330671.7:p.Tyr4113Phe
ENST00000409508.7:c.12317A>T	ENSP00000475939.1:p.Tyr4106Phe
ENST00000620169.4:c.12338A>T	ENSP00000481693.1:p.Tyr4113Phe
NM_001277115.1:c.12317A>T	NP_001264044.1:p.Tyr4106Phe
NM_001277115.2:c.12317A>T MANE Select	NP_001264044.1:p.Tyr4106Phe