Canonical Allele Identifier: CA292199936

Gene: CA4

Linked Data

• dbSNP Id: rs1049821151
• gnomAD v4: 17-60150014-G-T
• MyVariant Identifiers: chr17:g.58227375G>T (hg19) ; chr17:g.60150014G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150014G>T , CM000679.2:g.60150014G>T	GRCh38
NC_000017.10:g.58227375G>T , CM000679.1:g.58227375G>T	GRCh37
NC_000017.9:g.55582157G>T	NCBI36
NG_012050.1:g.5074G>T
NG_012050.2:g.5074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.-21G>T MANE Select	ENSP00000300900.3:n.-21G>T
ENST00000300900.8:c.-21G>T	ENSP00000300900.3:n.-21G>T
ENST00000585705.5:n.73G>T
ENST00000586876.1:c.-21G>T	ENSP00000467465.1:n.-21G>T
ENST00000591725.1:c.-379G>T	ENSP00000466964.1:n.-379G>T
NM_000717.3:c.-21G>T	NP_000708.1:n.-21G>T
XM_005257639.1:c.-21G>T	XP_005257696.1:n.-21G>T
NM_000717.4:c.-21G>T	NP_000708.1:n.-21G>T
NR_137422.1:n.79G>T
XM_005257639.3:c.-21G>T	XP_005257696.1:n.-21G>T
XR_001752604.2:n.73G>T
XR_001752605.2:n.73G>T
XR_001752606.2:n.73G>T
XR_001752607.2:n.73G>T
XR_001752608.2:n.73G>T
XR_001752609.2:n.73G>T
XR_001752610.2:n.73G>T
NM_000717.5:c.-21G>T MANE Select	NP_000708.1:n.-21G>T
NR_137422.2:n.42G>T