Canonical Allele Identifier: CA4181807

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359662
• ClinVar RCV Id: RCV000398962
• dbSNP Id: rs375595192
• ExAC: 7:21805077 C / T
• gnomAD v2: 7-21805077-C-T
• gnomAD v3: 7-21765459-C-T
• gnomAD v4: 7-21765459-C-T
• MyVariant Identifiers: chr7:g.21805077C>T (hg19) ; chr7:g.21765459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21765459C>T , CM000669.2:g.21765459C>T	GRCh38
NC_000007.13:g.21805077C>T , CM000669.1:g.21805077C>T	GRCh37
NC_000007.12:g.21771602C>T	NCBI36
NG_012886.2:g.227245C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.8972C>T MANE Select	ENSP00000475939.1:p.Thr2991Met
ENST00000328843.10:c.8993C>T	ENSP00000330671.7:p.Thr2998Met
ENST00000409508.7:c.8972C>T	ENSP00000475939.1:p.Thr2991Met
ENST00000620169.4:c.8993C>T	ENSP00000481693.1:p.Thr2998Met
NM_001277115.1:c.8972C>T	NP_001264044.1:p.Thr2991Met
NM_001277115.2:c.8972C>T MANE Select	NP_001264044.1:p.Thr2991Met