Canonical Allele Identifier: CA366959839

Gene: DNAH11

Linked Data

• dbSNP Id: rs1429778954
• gnomAD v3: 7-21854346-T-C
• gnomAD v4: 7-21854346-T-C
• MyVariant Identifiers: chr7:g.21893964T>C (hg19) ; chr7:g.21854346T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21854346T>C , CM000669.2:g.21854346T>C	GRCh38
NC_000007.13:g.21893964T>C , CM000669.1:g.21893964T>C	GRCh37
NC_000007.12:g.21860489T>C	NCBI36
NG_012886.2:g.316132T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.11093T>C MANE Select	ENSP00000475939.1:p.Ile3698Thr
ENST00000328843.10:c.11114T>C	ENSP00000330671.7:p.Ile3705Thr
ENST00000409508.7:c.11093T>C	ENSP00000475939.1:p.Ile3698Thr
ENST00000421290.1:n.276T>C
ENST00000607413.5:n.356T>C
ENST00000620169.4:c.11114T>C	ENSP00000481693.1:p.Ile3705Thr
NM_001277115.1:c.11093T>C	NP_001264044.1:p.Ile3698Thr
NM_001277115.2:c.11093T>C MANE Select	NP_001264044.1:p.Ile3698Thr