Canonical Allele Identifier: CA394876274

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16155025-T-A
• MyVariant Identifiers: chr16:g.16248882T>A (hg19) ; chr16:g.16155025T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155025T>A , CM000678.2:g.16155025T>A	GRCh38
NC_000016.9:g.16248882T>A , CM000678.1:g.16248882T>A	GRCh37
NC_000016.8:g.16156383T>A	NCBI36
NG_007558.2:g.73447A>T
NG_007558.3:g.73593A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.752A>T
ENST00000622290.5:c.*61A>T	ENSP00000483331.2:n.*61A>T
ENST00000205557.12:c.3889A>T MANE Select	ENSP00000205557.7:p.Ile1297Phe
ENST00000640696.1:c.703A>T	ENSP00000492197.1:p.Ile235Phe
ENST00000205557.11:c.3889A>T	ENSP00000205557.7:p.Ile1297Phe
ENST00000456970.6:c.3514A>T	ENSP00000405002.2:n.3514A>T
ENST00000576204.5:n.752A>T
ENST00000622290.4:c.*1098A>T	ENSP00000483331.1:n.*1098A>T
NM_001171.5:c.3889A>T	NP_001162.4:p.Ile1297Phe
XM_011522479.1:c.3856A>T	XP_011520781.1:p.Ile1286Phe
XM_011522480.1:c.3547A>T	XP_011520782.1:p.Ile1183Phe
XM_011522481.1:c.3547A>T	XP_011520783.1:p.Ile1183Phe
XR_932836.1:n.4187A>T
XR_932837.1:n.3925A>T
XR_932838.1:n.3988A>T
XR_933134.1:n.539-4756T>A
NM_001351800.1:c.3547A>T	NP_001338729.1:p.Ile1183Phe
NR_147784.1:n.3551A>T
XM_011522479.2:c.3856A>T	XP_011520781.1:p.Ile1286Phe
XM_011522481.3:c.3547A>T	XP_011520783.1:p.Ile1183Phe
XM_017023212.1:c.3721A>T	XP_016878701.1:p.Ile1241Phe
XM_024450261.1:c.3925A>T	XP_024306029.1:p.Ile1309Phe
XR_932836.2:n.4133A>T
XR_932837.3:n.3870A>T
XR_932838.3:n.3933A>T
NM_001171.6:c.3889A>T MANE Select	NP_001162.5:p.Ile1297Phe