Canonical Allele Identifier: CA278671834

Gene: ABCC1

Linked Data

• dbSNP Id: rs376202626
• gnomAD v3: 16-16142227-G-C
• gnomAD v4: 16-16142227-G-C
• MyVariant Identifiers: chr16:g.16236084G>C (hg19) ; chr16:g.16142227G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16142227G>C , CM000678.2:g.16142227G>C	GRCh38
NC_000016.9:g.16236084G>C , CM000678.1:g.16236084G>C	GRCh37
NC_000016.8:g.16143585G>C	NCBI36
NG_028268.1:g.197651G>C
NG_028268.2:g.197651G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.*946G>C	ENSP00000382340.4:n.*946G>C
ENST00000399410.8:c.*946G>C MANE Select	ENSP00000382342.3:n.*946G>C
ENST00000572882.3:c.*946G>C	ENSP00000461615.2:n.*946G>C
ENST00000676806.1:n.2268G>C
ENST00000677164.1:c.*946G>C	ENSP00000502873.1:n.*946G>C
ENST00000678422.1:c.*2639G>C	ENSP00000503954.1:n.*2639G>C
ENST00000399408.6:c.*946G>C	ENSP00000382340.3:n.*946G>C
ENST00000399410.7:c.*946G>C	ENSP00000382342.3:n.*946G>C
NM_004996.3:c.*946G>C	NP_004987.2:n.*946G>C
XM_011522497.1:c.*946G>C	XP_011520799.1:n.*946G>C
XM_011522498.1:c.*946G>C	XP_011520800.1:n.*946G>C
XM_011522498.2:c.*946G>C	XP_011520800.1:n.*946G>C
XM_017023237.1:c.*946G>C	XP_016878726.1:n.*946G>C
XM_017023238.1:c.*946G>C	XP_016878727.1:n.*946G>C
XM_017023239.1:c.*946G>C	XP_016878728.1:n.*946G>C
XM_017023240.1:c.*946G>C	XP_016878729.1:n.*946G>C
XM_017023241.1:c.*946G>C	XP_016878730.1:n.*946G>C
XM_017023242.1:c.*946G>C	XP_016878731.1:n.*946G>C
NM_004996.4:c.*946G>C MANE Select	NP_004987.2:n.*946G>C