Canonical Allele Identifier: CA400447881

Gene: CA4

Linked Data

• dbSNP Id: rs2083560582
• gnomAD v4: 17-60150090-C-G
• MyVariant Identifiers: chr17:g.58227451C>G (hg19) ; chr17:g.60150090C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150090C>G , CM000679.2:g.60150090C>G	GRCh38
NC_000017.10:g.58227451C>G , CM000679.1:g.58227451C>G	GRCh37
NC_000017.9:g.55582233C>G	NCBI36
NG_012050.1:g.5150C>G
NG_012050.2:g.5150C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.56C>G MANE Select	ENSP00000300900.3:p.Ala19Gly
ENST00000300900.8:c.56C>G	ENSP00000300900.3:p.Ala19Gly
ENST00000585705.5:n.149C>G
ENST00000586876.1:c.56C>G	ENSP00000467465.1:p.Ala19Gly
ENST00000591725.1:c.-303C>G	ENSP00000466964.1:n.-303C>G
NM_000717.3:c.56C>G	NP_000708.1:p.Ala19Gly
XM_005257639.1:c.56C>G	XP_005257696.1:p.Ala19Gly
NM_000717.4:c.56C>G	NP_000708.1:p.Ala19Gly
NR_137422.1:n.155C>G
XM_005257639.3:c.56C>G	XP_005257696.1:p.Ala19Gly
XR_001752604.2:n.149C>G
XR_001752605.2:n.149C>G
XR_001752606.2:n.149C>G
XR_001752607.2:n.149C>G
XR_001752608.2:n.149C>G
XR_001752609.2:n.149C>G
XR_001752610.2:n.149C>G
NM_000717.5:c.56C>G MANE Select	NP_000708.1:p.Ala19Gly
NR_137422.2:n.118C>G