Canonical Allele Identifier: CA394875957

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154988-G-A
• MyVariant Identifiers: chr16:g.16248845G>A (hg19) ; chr16:g.16154988G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154988G>A , CM000678.2:g.16154988G>A	GRCh38
NC_000016.9:g.16248845G>A , CM000678.1:g.16248845G>A	GRCh37
NC_000016.8:g.16156346G>A	NCBI36
NG_007558.2:g.73484C>T
NG_007558.3:g.73630C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.789C>T
ENST00000622290.5:c.*98C>T	ENSP00000483331.2:n.*98C>T
ENST00000205557.12:c.3926C>T MANE Select	ENSP00000205557.7:p.Ala1309Val
ENST00000640696.1:c.740C>T	ENSP00000492197.1:p.Ala247Val
ENST00000205557.11:c.3926C>T	ENSP00000205557.7:p.Ala1309Val
ENST00000456970.6:c.3551C>T	ENSP00000405002.2:n.3551C>T
ENST00000576204.5:n.789C>T
ENST00000622290.4:c.*1135C>T	ENSP00000483331.1:n.*1135C>T
NM_001171.5:c.3926C>T	NP_001162.4:p.Ala1309Val
XM_011522479.1:c.3893C>T	XP_011520781.1:p.Ala1298Val
XM_011522480.1:c.3584C>T	XP_011520782.1:p.Ala1195Val
XM_011522481.1:c.3584C>T	XP_011520783.1:p.Ala1195Val
XR_932836.1:n.4224C>T
XR_932837.1:n.3962C>T
XR_932838.1:n.4025C>T
XR_933134.1:n.539-4793G>A
NM_001351800.1:c.3584C>T	NP_001338729.1:p.Ala1195Val
NR_147784.1:n.3588C>T
XM_011522479.2:c.3893C>T	XP_011520781.1:p.Ala1298Val
XM_011522481.3:c.3584C>T	XP_011520783.1:p.Ala1195Val
XM_017023212.1:c.3758C>T	XP_016878701.1:p.Ala1253Val
XM_024450261.1:c.3962C>T	XP_024306029.1:p.Ala1321Val
XR_932836.2:n.4170C>T
XR_932837.3:n.3907C>T
XR_932838.3:n.3970C>T
NM_001171.6:c.3926C>T MANE Select	NP_001162.5:p.Ala1309Val