Canonical Allele Identifier: CA2639096173

Gene: CA4

Linked Data

• gnomAD v4: 17-60150021-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150021T>C , CM000679.2:g.60150021T>C	GRCh38
NC_000017.10:g.58227382T>C , CM000679.1:g.58227382T>C	GRCh37
NC_000017.9:g.55582164T>C	NCBI36
NG_012050.1:g.5081T>C
NG_012050.2:g.5081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.-14T>C MANE Select	ENSP00000300900.3:n.-14T>C
ENST00000300900.8:c.-14T>C	ENSP00000300900.3:n.-14T>C
ENST00000585705.5:n.80T>C
ENST00000586876.1:c.-14T>C	ENSP00000467465.1:n.-14T>C
ENST00000591725.1:c.-372T>C	ENSP00000466964.1:n.-372T>C
NM_000717.3:c.-14T>C	NP_000708.1:n.-14T>C
XM_005257639.1:c.-14T>C	XP_005257696.1:n.-14T>C
NM_000717.4:c.-14T>C	NP_000708.1:n.-14T>C
NR_137422.1:n.86T>C
XM_005257639.3:c.-14T>C	XP_005257696.1:n.-14T>C
XR_001752604.2:n.80T>C
XR_001752605.2:n.80T>C
XR_001752606.2:n.80T>C
XR_001752607.2:n.80T>C
XR_001752608.2:n.80T>C
XR_001752609.2:n.80T>C
XR_001752610.2:n.80T>C
NM_000717.5:c.-14T>C MANE Select	NP_000708.1:n.-14T>C
NR_137422.2:n.49T>C