Canonical Allele Identifier: CA155077763
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs563910516
gnomAD v2: 7-21745342-G-C
gnomAD v3: 7-21705724-G-C
gnomAD v4: 7-21705724-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21705724G>C , CM000669.2:g.21705724G>C GRCh38
NC_000007.13:g.21745342G>C , CM000669.1:g.21745342G>C GRCh37
NC_000007.12:g.21711867G>C NCBI36
NG_012886.2:g.167510G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.6546+187G>C MANE Select ENSP00000475939.1:n.6546+187G>C
ENST00000328843.10:c.6567+187G>C ENSP00000330671.7:n.6567+187G>C
ENST00000409508.7:c.6546+187G>C ENSP00000475939.1:n.6546+187G>C
ENST00000620169.4:c.6567+187G>C ENSP00000481693.1:n.6567+187G>C
NM_001277115.1:c.6546+187G>C NP_001264044.1:n.6546+187G>C
NM_001277115.2:c.6546+187G>C MANE Select NP_001264044.1:n.6546+187G>C