Canonical Allele Identifier: CA7924921

Gene: ABCC1

Linked Data

• dbSNP Id: rs768651283
• ExAC: 16:16228250 C / A
• gnomAD v2: 16-16228250-C-A
• gnomAD v4: 16-16134393-C-A
• MyVariant Identifiers: chr16:g.16228250C>A (hg19) ; chr16:g.16134393C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16134393C>A , CM000678.2:g.16134393C>A	GRCh38
NC_000016.9:g.16228250C>A , CM000678.1:g.16228250C>A	GRCh37
NC_000016.8:g.16135751C>A	NCBI36
NG_028268.1:g.189817C>A
NG_028268.2:g.189817C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.4040C>A	ENSP00000382340.4:p.Thr1347Asn
ENST00000399410.8:c.4010C>A MANE Select	ENSP00000382342.3:p.Thr1337Asn
ENST00000572882.3:c.3833C>A	ENSP00000461615.2:p.Thr1278Asn
ENST00000676806.1:n.736C>A
ENST00000677164.1:c.3539C>A	ENSP00000502873.1:p.Thr1180Asn
ENST00000678422.1:c.*1302C>A	ENSP00000503954.1:n.*1302C>A
ENST00000399408.6:c.3062C>A	ENSP00000382340.3:p.Thr1021Asn
ENST00000399410.7:c.4010C>A	ENSP00000382342.3:p.Thr1337Asn
ENST00000572882.2:c.3735C>A
NM_004996.3:c.4010C>A	NP_004987.2:p.Thr1337Asn
XM_011522497.1:c.3986C>A	XP_011520799.1:p.Thr1329Asn
XM_011522498.1:c.3917C>A	XP_011520800.1:p.Thr1306Asn
XM_011522498.2:c.3917C>A	XP_011520800.1:p.Thr1306Asn
XM_017023237.1:c.4064C>A	XP_016878726.1:p.Thr1355Asn
XM_017023238.1:c.3938C>A	XP_016878727.1:p.Thr1313Asn
XM_017023239.1:c.3926C>A	XP_016878728.1:p.Thr1309Asn
XM_017023240.1:c.3887C>A	XP_016878729.1:p.Thr1296Asn
XM_017023241.1:c.3800C>A	XP_016878730.1:p.Thr1267Asn
XM_017023242.1:c.3719C>A	XP_016878731.1:p.Thr1240Asn
NM_004996.4:c.4010C>A MANE Select	NP_004987.2:p.Thr1337Asn