Canonical Allele Identifier: CA4182872

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 454644
• ClinVar RCV Id: RCV000559527 ; RCV001283744 ; RCV001335803 ; RCV001547987
• dbSNP Id: rs72658814
• ExAC: 7:21907590 C / T
• gnomAD v2: 7-21907590-C-T
• gnomAD v3: 7-21867972-C-T
• gnomAD v4: 7-21867972-C-T
• MyVariant Identifiers: chr7:g.21907590C>T (hg19) ; chr7:g.21867972C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21867972C>T , CM000669.2:g.21867972C>T	GRCh38
NC_000007.13:g.21907590C>T , CM000669.1:g.21907590C>T	GRCh37
NC_000007.12:g.21874115C>T	NCBI36
NG_012886.2:g.329758C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.11804C>T MANE Select	ENSP00000475939.1:p.Pro3935Leu
ENST00000328843.10:c.11825C>T	ENSP00000330671.7:p.Pro3942Leu
ENST00000409508.7:c.11804C>T	ENSP00000475939.1:p.Pro3935Leu
ENST00000620169.4:c.11825C>T	ENSP00000481693.1:p.Pro3942Leu
NM_001277115.1:c.11804C>T	NP_001264044.1:p.Pro3935Leu
NM_001277115.2:c.11804C>T MANE Select	NP_001264044.1:p.Pro3935Leu