Canonical Allele Identifier: CA572922944

Gene: DNAH11

Linked Data

• dbSNP Id: rs1291286045
• gnomAD v2: 7-21893922-T-A
• gnomAD v3: 7-21854304-T-A
• gnomAD v4: 7-21854304-T-A
• MyVariant Identifiers: chr7:g.21893922T>A (hg19) ; chr7:g.21854304T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21854304T>A , CM000669.2:g.21854304T>A	GRCh38
NC_000007.13:g.21893922T>A , CM000669.1:g.21893922T>A	GRCh37
NC_000007.12:g.21860447T>A	NCBI36
NG_012886.2:g.316090T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.11062-11T>A MANE Select	ENSP00000475939.1:n.11062-11T>A
ENST00000328843.10:c.11083-11T>A	ENSP00000330671.7:n.11083-11T>A
ENST00000409508.7:c.11062-11T>A	ENSP00000475939.1:n.11062-11T>A
ENST00000421290.1:n.245-11T>A
ENST00000607413.5:n.325-11T>A
ENST00000620169.4:c.11083-11T>A	ENSP00000481693.1:n.11083-11T>A
NM_001277115.1:c.11062-11T>A	NP_001264044.1:n.11062-11T>A
NM_001277115.2:c.11062-11T>A MANE Select	NP_001264044.1:n.11062-11T>A