Canonical Allele Identifier: CA2038358755

Gene: CS

Linked Data

• dbSNP Id: rs1872959079
• gnomAD v3: 12-56287000-C-T
• gnomAD v4: 12-56287000-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56287000C>T , CM000674.2:g.56287000C>T	GRCh38
NC_000012.11:g.56680784C>T , CM000674.1:g.56680784C>T	GRCh37
NC_000012.10:g.54967051C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351328.8:c.43-355G>A MANE Select	ENSP00000342056.3:n.43-355G>A
ENST00000351328.7:c.43-355G>A	ENSP00000342056.3:n.43-355G>A
ENST00000542324.6:c.4-355G>A	ENSP00000440543.2:n.4-355G>A
ENST00000546930.5:c.43-355G>A	ENSP00000450403.1:n.43-355G>A
ENST00000547283.5:n.233-355G>A
ENST00000547298.5:c.-156-355G>A	ENSP00000448409.1:n.-156-355G>A
ENST00000547423.5:c.205-355G>A	ENSP00000446506.1:n.205-355G>A
ENST00000548041.5:c.43-355G>A	ENSP00000447986.1:n.43-355G>A
ENST00000548567.5:c.-156-355G>A	ENSP00000446779.1:n.-156-355G>A
ENST00000548849.5:c.43-355G>A	ENSP00000449491.1:n.43-355G>A
ENST00000549143.5:c.43-355G>A	ENSP00000449571.1:n.43-355G>A
ENST00000549221.5:c.43-4009G>A	ENSP00000448667.1:n.43-4009G>A
ENST00000549318.5:c.631-355G>A	ENSP00000446743.1:n.631-355G>A
ENST00000550044.1:n.208-380G>A
ENST00000550159.5:c.-229-380G>A	ENSP00000447346.1:n.-229-380G>A
ENST00000550655.5:c.43-355G>A	ENSP00000448172.1:n.43-355G>A
ENST00000550700.1:n.178-380G>A
ENST00000550734.5:c.-131-380G>A	ENSP00000449025.1:n.-131-380G>A
ENST00000550996.1:n.233-355G>A
ENST00000551137.5:c.-156-355G>A	ENSP00000449753.1:n.-156-355G>A
ENST00000551155.1:n.129-380G>A
ENST00000551253.5:c.-156-355G>A	ENSP00000450101.1:n.-156-355G>A
ENST00000551430.6:c.-156-355G>A	ENSP00000448166.2:n.-156-355G>A
ENST00000551441.5:n.258-355G>A
ENST00000551473.5:c.-156-355G>A	ENSP00000449427.1:n.-156-355G>A
ENST00000551936.5:c.-131-380G>A	ENSP00000450312.1:n.-131-380G>A
ENST00000551968.5:c.43-355G>A	ENSP00000447948.1:n.43-355G>A
ENST00000552222.5:c.43-355G>A	ENSP00000447582.1:n.43-355G>A
ENST00000552688.5:c.43-355G>A	ENSP00000447442.1:n.43-355G>A
NM_004077.2:c.43-355G>A	NP_004068.2:n.43-355G>A
NM_004077.3:c.43-355G>A MANE Select	NP_004068.2:n.43-355G>A