Canonical Allele Identifier: CA7924922

Gene: ABCC1

Linked Data

• dbSNP Id: rs748301592
• ExAC: 16:16228251 C / T
• gnomAD v2: 16-16228251-C-T
• gnomAD v3: 16-16134394-C-T
• gnomAD v4: 16-16134394-C-T
• MyVariant Identifiers: chr16:g.16228251C>T (hg19) ; chr16:g.16134394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16134394C>T , CM000678.2:g.16134394C>T	GRCh38
NC_000016.9:g.16228251C>T , CM000678.1:g.16228251C>T	GRCh37
NC_000016.8:g.16135752C>T	NCBI36
NG_028268.1:g.189818C>T
NG_028268.2:g.189818C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.4041C>T	ENSP00000382340.4:p.Thr1347=
ENST00000399410.8:c.4011C>T MANE Select	ENSP00000382342.3:p.Thr1337=
ENST00000572882.3:c.3834C>T	ENSP00000461615.2:p.Thr1278=
ENST00000676806.1:n.737C>T
ENST00000677164.1:c.3540C>T	ENSP00000502873.1:p.Thr1180=
ENST00000678422.1:c.*1303C>T	ENSP00000503954.1:n.*1303C>T
ENST00000399408.6:c.3063C>T	ENSP00000382340.3:p.Thr1021=
ENST00000399410.7:c.4011C>T	ENSP00000382342.3:p.Thr1337=
ENST00000572882.2:c.3736C>T
NM_004996.3:c.4011C>T	NP_004987.2:p.Thr1337=
XM_011522497.1:c.3987C>T	XP_011520799.1:p.Thr1329=
XM_011522498.1:c.3918C>T	XP_011520800.1:p.Thr1306=
XM_011522498.2:c.3918C>T	XP_011520800.1:p.Thr1306=
XM_017023237.1:c.4065C>T	XP_016878726.1:p.Thr1355=
XM_017023238.1:c.3939C>T	XP_016878727.1:p.Thr1313=
XM_017023239.1:c.3927C>T	XP_016878728.1:p.Thr1309=
XM_017023240.1:c.3888C>T	XP_016878729.1:p.Thr1296=
XM_017023241.1:c.3801C>T	XP_016878730.1:p.Thr1267=
XM_017023242.1:c.3720C>T	XP_016878731.1:p.Thr1240=
NM_004996.4:c.4011C>T MANE Select	NP_004987.2:p.Thr1337=