Canonical Allele Identifier: CA16294084
Gene: DNAH11 HGNC NCBI
dbSNP:
6461593
gnomAD v2:
7:21704005 T / C
gnomAD v3:
7:21664387 T / C
gnomAD v4:
chr7-21664387-T-C
Joint Max Group AF 0.38670668 (AFR)
Genomes Max Group AF 0.38670668 (AFR)
MyVariant.info:
GRCh38 chr7:g.21664387T>C
GRCh37 chr7:g.21704005T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21664387T>C , CM000669.2:g.21664387T>C GRCh38
NC_000007.13:g.21704005T>C , CM000669.1:g.21704005T>C GRCh37
NC_000007.12:g.21670530T>C NCBI36
NG_012886.2:g.126173T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.5328+5356T>C MANE Select ENSP00000475939.1:n.5328+5356T>C
ENST00000328843.10:c.5343+5356T>C ENSP00000330671.7:n.5343+5356T>C
ENST00000409508.7:c.5328+5356T>C ENSP00000475939.1:n.5328+5356T>C
ENST00000620169.4:c.5343+5356T>C ENSP00000481693.1:n.5343+5356T>C
NM_001277115.1:c.5328+5356T>C NP_001264044.1:n.5328+5356T>C
NM_001277115.2:c.5328+5356T>C MANE Select NP_001264044.1:n.5328+5356T>C
Search 100 bp 5'
Search 100 bp 3'