Canonical Allele Identifier: CA7925592

Gene: ABCC6

Linked Data

• dbSNP Id: rs554806195
• ExAC: 16:16256970 T / C
• gnomAD v2: 16-16256970-T-C
• gnomAD v3: 16-16163113-T-C
• gnomAD v4: 16-16163113-T-C
• MyVariant Identifiers: chr16:g.16256970T>C (hg19) ; chr16:g.16163113T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163113T>C , CM000678.2:g.16163113T>C	GRCh38
NC_000016.9:g.16256970T>C , CM000678.1:g.16256970T>C	GRCh37
NC_000016.8:g.16164471T>C	NCBI36
NG_007558.2:g.65359A>G
NG_007558.3:g.65505A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3386A>G	ENSP00000483331.2:p.Glu1129Gly
ENST00000205557.12:c.3386A>G MANE Select	ENSP00000205557.7:p.Glu1129Gly
ENST00000640696.1:c.321-1549A>G	ENSP00000492197.1:n.321-1549A>G
ENST00000205557.11:c.3386A>G	ENSP00000205557.7:p.Glu1129Gly
ENST00000456970.6:c.3132-1549A>G	ENSP00000405002.2:n.3132-1549A>G
ENST00000622290.4:c.*595A>G	ENSP00000483331.1:n.*595A>G
NM_001171.5:c.3386A>G	NP_001162.4:p.Glu1129Gly
XM_011522479.1:c.3353A>G	XP_011520781.1:p.Glu1118Gly
XM_011522480.1:c.3044A>G	XP_011520782.1:p.Glu1015Gly
XM_011522481.1:c.3044A>G	XP_011520783.1:p.Glu1015Gly
XR_932836.1:n.3621A>G
XR_932837.1:n.3543-1549A>G
XR_932838.1:n.3543-1549A>G
XR_933133.1:n.407+270T>C
XR_933134.1:n.754+270T>C
NM_001351800.1:c.3044A>G	NP_001338729.1:p.Glu1015Gly
NR_147784.1:n.3169-1549A>G
XM_011522479.2:c.3353A>G	XP_011520781.1:p.Glu1118Gly
XM_011522481.3:c.3044A>G	XP_011520783.1:p.Glu1015Gly
XM_017023212.1:c.3218A>G	XP_016878701.1:p.Glu1073Gly
XM_017023214.1:c.3307-1549A>G	XP_016878703.1:n.3307-1549A>G
XM_024450261.1:c.3422A>G	XP_024306029.1:p.Glu1141Gly
XR_932836.2:n.3567A>G
XR_932837.3:n.3488-1549A>G
XR_932838.3:n.3488-1549A>G
NM_001171.6:c.3386A>G MANE Select	NP_001162.5:p.Glu1129Gly