Canonical Allele Identifier: CA155116012
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 454629
ClinVar RCV Id: RCV000550822
dbSNP Id: rs972753865
gnomAD v2: 7-21847669-T-C
gnomAD v3: 7-21808051-T-C
gnomAD v4: 7-21808051-T-C
MyVariant Identifiers: chr7:g.21847669T>C (hg19) chr7:g.21808051T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21808051T>C , CM000669.2:g.21808051T>C GRCh38
NC_000007.13:g.21847669T>C , CM000669.1:g.21847669T>C GRCh37
NC_000007.12:g.21814194T>C NCBI36
NG_012886.2:g.269837T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10332+2T>C MANE Select ENSP00000475939.1:n.10332+2T>C
ENST00000328843.10:c.10353+2T>C ENSP00000330671.7:n.10353+2T>C
ENST00000409508.7:c.10332+2T>C ENSP00000475939.1:n.10332+2T>C
ENST00000620169.4:c.10353+2T>C ENSP00000481693.1:n.10353+2T>C
NM_001277115.1:c.10332+2T>C NP_001264044.1:n.10332+2T>C
NM_001277115.2:c.10332+2T>C MANE Select NP_001264044.1:n.10332+2T>C
Search 100 bp 5'
Search 100 bp 3'