Canonical Allele Identifier: CA605268214

Gene: CS

Linked Data

• dbSNP Id: rs1189964224
• gnomAD v2: 12-56680680-C-G
• gnomAD v3: 12-56286896-C-G
• gnomAD v4: 12-56286896-C-G
• MyVariant Identifiers: chr12:g.56680680C>G (hg19) ; chr12:g.56286896C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56286896C>G , CM000674.2:g.56286896C>G	GRCh38
NC_000012.11:g.56680680C>G , CM000674.1:g.56680680C>G	GRCh37
NC_000012.10:g.54966947C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000351328.8:c.43-251G>C MANE Select	ENSP00000342056.3:n.43-251G>C
ENST00000351328.7:c.43-251G>C	ENSP00000342056.3:n.43-251G>C
ENST00000542324.6:c.4-251G>C	ENSP00000440543.2:n.4-251G>C
ENST00000546930.5:c.43-251G>C	ENSP00000450403.1:n.43-251G>C
ENST00000547283.5:n.233-251G>C
ENST00000547298.5:c.-156-251G>C	ENSP00000448409.1:n.-156-251G>C
ENST00000547423.5:c.205-251G>C	ENSP00000446506.1:n.205-251G>C
ENST00000548041.5:c.43-251G>C	ENSP00000447986.1:n.43-251G>C
ENST00000548567.5:c.-156-251G>C	ENSP00000446779.1:n.-156-251G>C
ENST00000548849.5:c.43-251G>C	ENSP00000449491.1:n.43-251G>C
ENST00000549143.5:c.43-251G>C	ENSP00000449571.1:n.43-251G>C
ENST00000549221.5:c.43-3905G>C	ENSP00000448667.1:n.43-3905G>C
ENST00000549318.5:c.631-251G>C	ENSP00000446743.1:n.631-251G>C
ENST00000550044.1:n.208-276G>C
ENST00000550159.5:c.-229-276G>C	ENSP00000447346.1:n.-229-276G>C
ENST00000550655.5:c.43-251G>C	ENSP00000448172.1:n.43-251G>C
ENST00000550700.1:n.178-276G>C
ENST00000550734.5:c.-131-276G>C	ENSP00000449025.1:n.-131-276G>C
ENST00000550996.1:n.233-251G>C
ENST00000551137.5:c.-156-251G>C	ENSP00000449753.1:n.-156-251G>C
ENST00000551155.1:n.129-276G>C
ENST00000551253.5:c.-156-251G>C	ENSP00000450101.1:n.-156-251G>C
ENST00000551430.6:c.-156-251G>C	ENSP00000448166.2:n.-156-251G>C
ENST00000551441.5:n.258-251G>C
ENST00000551473.5:c.-156-251G>C	ENSP00000449427.1:n.-156-251G>C
ENST00000551936.5:c.-131-276G>C	ENSP00000450312.1:n.-131-276G>C
ENST00000551968.5:c.43-251G>C	ENSP00000447948.1:n.43-251G>C
ENST00000552222.5:c.43-251G>C	ENSP00000447582.1:n.43-251G>C
ENST00000552688.5:c.43-251G>C	ENSP00000447442.1:n.43-251G>C
NM_004077.2:c.43-251G>C	NP_004068.2:n.43-251G>C
NM_004077.3:c.43-251G>C MANE Select	NP_004068.2:n.43-251G>C