Canonical Allele Identifier: CA292199956

Gene: CA4

Linked Data

• dbSNP Id: rs1019161084
• MyVariant Identifiers: chr17:g.58227409T>C (hg19) ; chr17:g.60150048T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150048T>C , CM000679.2:g.60150048T>C	GRCh38
NC_000017.10:g.58227409T>C , CM000679.1:g.58227409T>C	GRCh37
NC_000017.9:g.55582191T>C	NCBI36
NG_012050.1:g.5108T>C
NG_012050.2:g.5108T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.14T>C MANE Select	ENSP00000300900.3:p.Leu5Pro
ENST00000300900.8:c.14T>C	ENSP00000300900.3:p.Leu5Pro
ENST00000585705.5:n.107T>C
ENST00000586876.1:c.14T>C	ENSP00000467465.1:p.Leu5Pro
ENST00000591725.1:c.-345T>C	ENSP00000466964.1:n.-345T>C
NM_000717.3:c.14T>C	NP_000708.1:p.Leu5Pro
XM_005257639.1:c.14T>C	XP_005257696.1:p.Leu5Pro
NM_000717.4:c.14T>C	NP_000708.1:p.Leu5Pro
NR_137422.1:n.113T>C
XM_005257639.3:c.14T>C	XP_005257696.1:p.Leu5Pro
XR_001752604.2:n.107T>C
XR_001752605.2:n.107T>C
XR_001752606.2:n.107T>C
XR_001752607.2:n.107T>C
XR_001752608.2:n.107T>C
XR_001752609.2:n.107T>C
XR_001752610.2:n.107T>C
NM_000717.5:c.14T>C MANE Select	NP_000708.1:p.Leu5Pro
NR_137422.2:n.76T>C