Canonical Allele Identifier: CA4178983

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 226583
• ClinVar RCV Id: RCV000214869 ; RCV000233997 ; RCV001731439 ; RCV003114375
• dbSNP Id: rs72655983
• ExAC: 7:21611415 T / C
• gnomAD v2: 7-21611415-T-C
• gnomAD v3: 7-21571797-T-C
• gnomAD v4: 7-21571797-T-C
• MyVariant Identifiers: chr7:g.21611415T>C (hg19) ; chr7:g.21571797T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21571797T>C , CM000669.2:g.21571797T>C	GRCh38
NC_000007.13:g.21611415T>C , CM000669.1:g.21611415T>C	GRCh37
NC_000007.12:g.21577940T>C	NCBI36
NG_012886.2:g.33583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.1426-9T>C MANE Select	ENSP00000475939.1:n.1426-9T>C
ENST00000328843.10:c.1426-9T>C	ENSP00000330671.7:n.1426-9T>C
ENST00000409508.7:c.1426-9T>C	ENSP00000475939.1:n.1426-9T>C
ENST00000620169.4:c.1426-9T>C	ENSP00000481693.1:n.1426-9T>C
NM_001277115.1:c.1426-9T>C	NP_001264044.1:n.1426-9T>C
XR_927090.1:n.563+1529A>G
XR_001745114.1:n.2793+1529A>G
NM_001277115.2:c.1426-9T>C MANE Select	NP_001264044.1:n.1426-9T>C