Canonical Allele Identifier: CA14863325

Gene: ABCG1

Linked Data

• dbSNP Id: rs3788007
• gnomAD v2: 21-43706776-G-A
• gnomAD v3: 21-42286666-G-A
• gnomAD v4: 21-42286666-G-A
• MyVariant Identifiers: chr21:g.43706776G>A (hg19) ; chr21:g.42286666G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42286666G>A , CM000683.2:g.42286666G>A	GRCh38
NC_000021.8:g.43706776G>A , CM000683.1:g.43706776G>A	GRCh37
NC_000021.7:g.42579845G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398449.8:c.973+672G>A MANE Select	ENSP00000381467.3:n.973+672G>A
ENST00000343687.7:c.1006+672G>A	ENSP00000339744.3:n.1006+672G>A
ENST00000347800.6:c.964+672G>A	ENSP00000291524.4:n.964+672G>A
ENST00000361802.6:c.973+672G>A	ENSP00000354995.2:n.973+672G>A
ENST00000398437.1:c.1411+672G>A	ENSP00000381464.1:n.1411+672G>A
ENST00000398449.7:c.973+672G>A	ENSP00000381467.3:n.973+672G>A
ENST00000398457.6:c.979+672G>A	ENSP00000381475.2:n.979+672G>A
ENST00000462050.5:n.1157+672G>A
ENST00000472587.5:n.987+672G>A
ENST00000496783.1:n.61+672G>A
NM_004915.3:c.973+672G>A	NP_004906.3:n.973+672G>A
NM_016818.2:c.973+672G>A	NP_058198.2:n.973+672G>A
NM_207174.1:c.1006+672G>A	NP_997057.1:n.1006+672G>A
NM_207627.1:c.979+672G>A	NP_997510.1:n.979+672G>A
NM_207628.1:c.907+672G>A	NP_997511.1:n.907+672G>A
NM_207629.1:c.964+672G>A	NP_997512.1:n.964+672G>A
XM_011529806.1:c.1006+672G>A	XP_011528108.1:n.1006+672G>A
XM_011529807.1:c.1006+672G>A	XP_011528109.1:n.1006+672G>A
XM_011529807.3:c.1006+672G>A	XP_011528109.1:n.1006+672G>A
XM_024452141.1:c.1297+672G>A	XP_024307909.1:n.1297+672G>A
NM_004915.4:c.973+672G>A	NP_004906.3:n.973+672G>A
NM_016818.3:c.973+672G>A MANE Select	NP_058198.2:n.973+672G>A
NM_207627.2:c.979+672G>A	NP_997510.1:n.979+672G>A
NM_207629.2:c.964+672G>A	NP_997512.1:n.964+672G>A