Canonical Allele Identifier: CA4180047

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 238918
• ClinVar RCV Id: RCV000230700 ; RCV001576866
• dbSNP Id: rs72657321
• ExAC: 7:21659634 C / T
• gnomAD v2: 7-21659634-C-T
• gnomAD v3: 7-21620016-C-T
• gnomAD v4: 7-21620016-C-T
• MyVariant Identifiers: chr7:g.21659634C>T (hg19) ; chr7:g.21620016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21620016C>T , CM000669.2:g.21620016C>T	GRCh38
NC_000007.13:g.21659634C>T , CM000669.1:g.21659634C>T	GRCh37
NC_000007.12:g.21626159C>T	NCBI36
NG_012886.2:g.81802C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4438C>T MANE Select	ENSP00000475939.1:p.Arg1480Ter
ENST00000328843.10:c.4453C>T	ENSP00000330671.7:p.Arg1485Ter
ENST00000409508.7:c.4438C>T	ENSP00000475939.1:p.Arg1480Ter
ENST00000465593.1:n.464C>T
ENST00000620169.4:c.4453C>T	ENSP00000481693.1:p.Arg1485Ter
NM_001277115.1:c.4438C>T	NP_001264044.1:p.Arg1480Ter
NM_001277115.2:c.4438C>T MANE Select	NP_001264044.1:p.Arg1480Ter