Canonical Allele Identifier: CA621195385

Gene: ABCC1

Linked Data

• dbSNP Id: rs1378348202
• gnomAD v2: 16-16119037-T-C
• gnomAD v3: 16-16025180-T-C
• gnomAD v4: 16-16025180-T-C
• MyVariant Identifiers: chr16:g.16119037T>C (hg19) ; chr16:g.16025180T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16025180T>C , CM000678.2:g.16025180T>C	GRCh38
NC_000016.9:g.16119037T>C , CM000678.1:g.16119037T>C	GRCh37
NC_000016.8:g.16026538T>C	NCBI36
NG_028268.1:g.80604T>C
NG_028268.2:g.80604T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.616-7929T>C	ENSP00000382340.4:n.616-7929T>C
ENST00000399410.8:c.616-7929T>C MANE Select	ENSP00000382342.3:n.616-7929T>C
ENST00000572882.3:c.616-7929T>C	ENSP00000461615.2:n.616-7929T>C
ENST00000574224.2:n.691-7929T>C
ENST00000677164.1:c.490-7929T>C	ENSP00000502873.1:n.490-7929T>C
ENST00000678422.1:c.616-7929T>C	ENSP00000503954.1:n.616-7929T>C
ENST00000679043.1:n.568-7929T>C
ENST00000399408.6:c.-363-7929T>C	ENSP00000382340.3:n.-363-7929T>C
ENST00000399410.7:c.616-7929T>C	ENSP00000382342.3:n.616-7929T>C
ENST00000572882.2:c.311-7929T>C
ENST00000574224.1:n.216-7929T>C
NM_004996.3:c.616-7929T>C	NP_004987.2:n.616-7929T>C
XM_011522497.1:c.592-7929T>C	XP_011520799.1:n.592-7929T>C
XM_011522498.1:c.670-7929T>C	XP_011520800.1:n.670-7929T>C
XM_011522498.2:c.670-7929T>C	XP_011520800.1:n.670-7929T>C
XM_017023237.1:c.670-7929T>C	XP_016878726.1:n.670-7929T>C
XM_017023238.1:c.544-7929T>C	XP_016878727.1:n.544-7929T>C
XM_017023239.1:c.532-7929T>C	XP_016878728.1:n.532-7929T>C
XM_017023240.1:c.670-7929T>C	XP_016878729.1:n.670-7929T>C
XM_017023241.1:c.406-7929T>C	XP_016878730.1:n.406-7929T>C
XM_017023242.1:c.670-7929T>C	XP_016878731.1:n.670-7929T>C
XM_017023243.2:c.670-7929T>C	XP_016878732.1:n.670-7929T>C
NM_004996.4:c.616-7929T>C MANE Select	NP_004987.2:n.616-7929T>C