Canonical Allele Identifier: CA349929

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 221193
• ClinVar RCV Id: RCV000205811 ; RCV000244962 ; RCV003437007
• dbSNP Id: rs79955190
• ExAC: 7:21640756 C / T
• gnomAD v2: 7-21640756-C-T
• gnomAD v3: 7-21601138-C-T
• gnomAD v4: 7-21601138-C-T
• MyVariant Identifiers: chr7:g.21640756C>T (hg19) ; chr7:g.21601138C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21601138C>T , CM000669.2:g.21601138C>T	GRCh38
NC_000007.13:g.21640756C>T , CM000669.1:g.21640756C>T	GRCh37
NC_000007.12:g.21607281C>T	NCBI36
NG_012886.2:g.62924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.3384C>T MANE Select	ENSP00000475939.1:p.Ser1128=
ENST00000328843.10:c.3384C>T	ENSP00000330671.7:p.Ser1128=
ENST00000409508.7:c.3384C>T	ENSP00000475939.1:p.Ser1128=
ENST00000620169.4:c.3384C>T	ENSP00000481693.1:p.Ser1128=
NM_001277115.1:c.3384C>T	NP_001264044.1:p.Ser1128=
NM_001277115.2:c.3384C>T MANE Select	NP_001264044.1:p.Ser1128=