Canonical Allele Identifier: CA4182383

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 2891585
• ClinVar RCV Id: RCV003650169
• dbSNP Id: rs200972634
• ExAC: 7:21856287 T / G
• gnomAD v2: 7-21856287-T-G
• gnomAD v3: 7-21816669-T-G
• gnomAD v4: 7-21816669-T-G
• MyVariant Identifiers: chr7:g.21856287T>G (hg19) ; chr7:g.21816669T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21816669T>G , CM000669.2:g.21816669T>G	GRCh38
NC_000007.13:g.21856287T>G , CM000669.1:g.21856287T>G	GRCh37
NC_000007.12:g.21822812T>G	NCBI36
NG_012886.2:g.278455T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.10535T>G MANE Select	ENSP00000475939.1:p.Met3512Arg
ENST00000328843.10:c.10556T>G	ENSP00000330671.7:p.Met3519Arg
ENST00000409508.7:c.10535T>G	ENSP00000475939.1:p.Met3512Arg
ENST00000620169.4:c.10556T>G	ENSP00000481693.1:p.Met3519Arg
NM_001277115.1:c.10535T>G	NP_001264044.1:p.Met3512Arg
NM_001277115.2:c.10535T>G MANE Select	NP_001264044.1:p.Met3512Arg