Canonical Allele Identifier: CA4183273

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 227320
• ClinVar RCV Id: RCV000215532 ; RCV000336279
• dbSNP Id: rs149634292
• ExAC: 7:21938939 C / T
• gnomAD v2: 7-21938939-C-T
• gnomAD v3: 7-21899321-C-T
• gnomAD v4: 7-21899321-C-T
• MyVariant Identifiers: chr7:g.21938939C>T (hg19) ; chr7:g.21899321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21899321C>T , CM000669.2:g.21899321C>T	GRCh38
NC_000007.13:g.21938939C>T , CM000669.1:g.21938939C>T	GRCh37
NC_000007.12:g.21905464C>T	NCBI36
NG_012886.2:g.361107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.13050-15C>T MANE Select	ENSP00000475939.1:n.13050-15C>T
ENST00000328843.10:c.13071-15C>T	ENSP00000330671.7:n.13071-15C>T
ENST00000409508.7:c.13050-15C>T	ENSP00000475939.1:n.13050-15C>T
ENST00000479878.1:n.421-15C>T
ENST00000620169.4:c.13071-15C>T	ENSP00000481693.1:n.13071-15C>T
NM_001277115.1:c.13050-15C>T	NP_001264044.1:n.13050-15C>T
NM_001277115.2:c.13050-15C>T MANE Select	NP_001264044.1:n.13050-15C>T