Canonical Allele Identifier: CA572913294

Gene: DNAH11

Linked Data

• dbSNP Id: rs1169088978
• gnomAD v2: 7-21607219-A-G
• gnomAD v3: 7-21567601-A-G
• gnomAD v4: 7-21567601-A-G
• MyVariant Identifiers: chr7:g.21607219A>G (hg19) ; chr7:g.21567601A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21567601A>G , CM000669.2:g.21567601A>G	GRCh38
NC_000007.13:g.21607219A>G , CM000669.1:g.21607219A>G	GRCh37
NC_000007.12:g.21573744A>G	NCBI36
NG_012886.2:g.29387A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.1195-2468A>G MANE Select	ENSP00000475939.1:n.1195-2468A>G
ENST00000328843.10:c.1195-2468A>G	ENSP00000330671.7:n.1195-2468A>G
ENST00000409508.7:c.1195-2468A>G	ENSP00000475939.1:n.1195-2468A>G
ENST00000496218.1:n.81-2468A>G
ENST00000620169.4:c.1195-2468A>G	ENSP00000481693.1:n.1195-2468A>G
NM_001277115.1:c.1195-2468A>G	NP_001264044.1:n.1195-2468A>G
XR_927090.1:n.563+5725T>C
XR_001745114.1:n.2793+5725T>C
NM_001277115.2:c.1195-2468A>G MANE Select	NP_001264044.1:n.1195-2468A>G