Canonical Allele Identifier: CA155108713

Gene: DNAH11

Linked Data

• dbSNP Id: rs72657313
• gnomAD v3: 7-21619000-T-G
• gnomAD v4: 7-21619000-T-G
• MyVariant Identifiers: chr7:g.21658618T>G (hg19) ; chr7:g.21619000T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21619000T>G , CM000669.2:g.21619000T>G	GRCh38
NC_000007.13:g.21658618T>G , CM000669.1:g.21658618T>G	GRCh37
NC_000007.12:g.21625143T>G	NCBI36
NG_012886.2:g.80786T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4255-100T>G MANE Select	ENSP00000475939.1:n.4255-100T>G
ENST00000328843.10:c.4270-100T>G	ENSP00000330671.7:n.4270-100T>G
ENST00000409508.7:c.4255-100T>G	ENSP00000475939.1:n.4255-100T>G
ENST00000465593.1:n.281-100T>G
ENST00000620169.4:c.4270-100T>G	ENSP00000481693.1:n.4270-100T>G
NM_001277115.1:c.4255-100T>G	NP_001264044.1:n.4255-100T>G
NM_001277115.2:c.4255-100T>G MANE Select	NP_001264044.1:n.4255-100T>G