Canonical Allele Identifier: CA836681129

Gene: DNAH11

Linked Data

• dbSNP Id: rs1296091303
• gnomAD v3: 7-21567687-A-G
• gnomAD v4: 7-21567687-A-G
• MyVariant Identifiers: chr7:g.21607305A>G (hg19) ; chr7:g.21567687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21567687A>G , CM000669.2:g.21567687A>G	GRCh38
NC_000007.13:g.21607305A>G , CM000669.1:g.21607305A>G	GRCh37
NC_000007.12:g.21573830A>G	NCBI36
NG_012886.2:g.29473A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.1195-2382A>G MANE Select	ENSP00000475939.1:n.1195-2382A>G
ENST00000328843.10:c.1195-2382A>G	ENSP00000330671.7:n.1195-2382A>G
ENST00000409508.7:c.1195-2382A>G	ENSP00000475939.1:n.1195-2382A>G
ENST00000496218.1:n.81-2382A>G
ENST00000620169.4:c.1195-2382A>G	ENSP00000481693.1:n.1195-2382A>G
NM_001277115.1:c.1195-2382A>G	NP_001264044.1:n.1195-2382A>G
XR_927090.1:n.563+5639T>C
XR_001745114.1:n.2793+5639T>C
NM_001277115.2:c.1195-2382A>G MANE Select	NP_001264044.1:n.1195-2382A>G