Canonical Allele Identifier: CA4182624
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs753502458
ExAC: 7:21893994 T / C
gnomAD v2: 7-21893994-T-C
gnomAD v4: 7-21854376-T-C
MyVariant Identifiers: chr7:g.21893994T>C (hg19) chr7:g.21854376T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21854376T>C , CM000669.2:g.21854376T>C GRCh38
NC_000007.13:g.21893994T>C , CM000669.1:g.21893994T>C GRCh37
NC_000007.12:g.21860519T>C NCBI36
NG_012886.2:g.316162T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.11123T>C MANE Select ENSP00000475939.1:p.Val3708Ala
ENST00000328843.10:c.11144T>C ENSP00000330671.7:p.Val3715Ala
ENST00000409508.7:c.11123T>C ENSP00000475939.1:p.Val3708Ala
ENST00000421290.1:n.306T>C
ENST00000607413.5:n.386T>C
ENST00000620169.4:c.11144T>C ENSP00000481693.1:p.Val3715Ala
NM_001277115.1:c.11123T>C NP_001264044.1:p.Val3708Ala
NM_001277115.2:c.11123T>C MANE Select NP_001264044.1:p.Val3708Ala
Search 100 bp 5'
Search 100 bp 3'