Canonical Allele Identifier: CA197392943

Gene: ABCA1

Linked Data

• dbSNP Id: rs1017142178
• gnomAD v2: 9-107588082-G-C
• gnomAD v3: 9-104825801-G-C
• gnomAD v4: 9-104825801-G-C
• MyVariant Identifiers: chr9:g.107588082G>C (hg19) ; chr9:g.104825801G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104825801G>C , CM000671.2:g.104825801G>C	GRCh38
NC_000009.11:g.107588082G>C , CM000671.1:g.107588082G>C	GRCh37
NC_000009.10:g.106627903G>C	NCBI36
NG_007981.1:g.107355C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.2424C>G MANE Select	ENSP00000363868.3:p.Asn808Lys
ENST00000678995.1:c.2424C>G	ENSP00000504612.1:p.Asn808Lys
ENST00000374736.7:c.2424C>G	ENSP00000363868.3:p.Asn808Lys
ENST00000494467.1:n.597C>G
NM_005502.3:c.2424C>G	NP_005493.2:p.Asn808Lys
XM_005251773.1:c.2424C>G	XP_005251830.1:p.Asn808Lys
XM_005251776.1:c.2244C>G	XP_005251833.1:p.Asn748Lys
XM_011518339.1:c.2499C>G	XP_011516641.1:p.Asn833Lys
XM_011518340.1:c.2499C>G	XP_011516642.1:p.Asn833Lys
XM_011518341.1:c.2499C>G	XP_011516643.1:p.Asn833Lys
XM_011518342.1:c.2061C>G	XP_011516644.1:p.Asn687Lys
XM_011518343.1:c.2499C>G	XP_011516645.1:p.Asn833Lys
XM_011518344.1:c.2499C>G	XP_011516646.1:p.Asn833Lys
XM_005251773.3:c.2424C>G	XP_005251830.1:p.Asn808Lys
XM_005251776.3:c.2244C>G	XP_005251833.1:p.Asn748Lys
XM_011518339.3:c.2499C>G	XP_011516641.1:p.Asn833Lys
XM_011518340.3:c.2499C>G	XP_011516642.1:p.Asn833Lys
XM_011518341.3:c.2499C>G	XP_011516643.1:p.Asn833Lys
XM_011518342.3:c.2061C>G	XP_011516644.1:p.Asn687Lys
XM_011518344.2:c.2499C>G	XP_011516646.1:p.Asn833Lys
XM_017014378.2:c.2499C>G	XP_016869867.1:p.Asn833Lys
XM_017014379.2:c.2499C>G	XP_016869868.1:p.Asn833Lys
XM_017014380.2:c.2499C>G	XP_016869869.1:p.Asn833Lys
XM_017014381.2:c.2499C>G	XP_016869870.1:p.Asn833Lys
XM_017014382.2:c.2361C>G	XP_016869871.1:p.Asn787Lys
XR_001746223.1:n.2812C>G
NM_005502.4:c.2424C>G MANE Select	NP_005493.2:p.Asn808Lys