Canonical Allele Identifier: CA366959988

Gene: DNAH11

Linked Data

• dbSNP Id: rs1239492413
• gnomAD v2: 7-21894000-C-A
• gnomAD v4: 7-21854382-C-A
• MyVariant Identifiers: chr7:g.21894000C>A (hg19) ; chr7:g.21854382C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21854382C>A , CM000669.2:g.21854382C>A	GRCh38
NC_000007.13:g.21894000C>A , CM000669.1:g.21894000C>A	GRCh37
NC_000007.12:g.21860525C>A	NCBI36
NG_012886.2:g.316168C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.11129C>A MANE Select	ENSP00000475939.1:p.Ala3710Glu
ENST00000328843.10:c.11150C>A	ENSP00000330671.7:p.Ala3717Glu
ENST00000409508.7:c.11129C>A	ENSP00000475939.1:p.Ala3710Glu
ENST00000421290.1:n.312C>A
ENST00000607413.5:n.392C>A
ENST00000620169.4:c.11150C>A	ENSP00000481693.1:p.Ala3717Glu
NM_001277115.1:c.11129C>A	NP_001264044.1:p.Ala3710Glu
NM_001277115.2:c.11129C>A MANE Select	NP_001264044.1:p.Ala3710Glu