Canonical Allele Identifier: CA4183044

Gene: DNAH11

Linked Data

• dbSNP Id: rs770644672
• ExAC: 7:21920492 A / G
• gnomAD v2: 7-21920492-A-G
• gnomAD v3: 7-21880874-A-G
• gnomAD v4: 7-21880874-A-G
• MyVariant Identifiers: chr7:g.21920492A>G (hg19) ; chr7:g.21880874A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21880874A>G , CM000669.2:g.21880874A>G	GRCh38
NC_000007.13:g.21920492A>G , CM000669.1:g.21920492A>G	GRCh37
NC_000007.12:g.21887017A>G	NCBI36
NG_012886.2:g.342660A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.12368A>G MANE Select	ENSP00000475939.1:p.Tyr4123Cys
ENST00000328843.10:c.12389A>G	ENSP00000330671.7:p.Tyr4130Cys
ENST00000409508.7:c.12368A>G	ENSP00000475939.1:p.Tyr4123Cys
ENST00000620169.4:c.12389A>G	ENSP00000481693.1:p.Tyr4130Cys
NM_001277115.1:c.12368A>G	NP_001264044.1:p.Tyr4123Cys
NM_001277115.2:c.12368A>G MANE Select	NP_001264044.1:p.Tyr4123Cys