Canonical Allele Identifier: CA7925478

Gene: ABCC6

Linked Data

• dbSNP Id: rs745938225
• ExAC: 16:16253366 C / T
• gnomAD v2: 16-16253366-C-T
• gnomAD v3: 16-16159509-C-T
• gnomAD v4: 16-16159509-C-T
• MyVariant Identifiers: chr16:g.16253366C>T (hg19) ; chr16:g.16159509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159509C>T , CM000678.2:g.16159509C>T	GRCh38
NC_000016.9:g.16253366C>T , CM000678.1:g.16253366C>T	GRCh37
NC_000016.8:g.16160867C>T	NCBI36
NG_007558.2:g.68963G>A
NG_007558.3:g.69109G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3708G>A	ENSP00000483331.2:p.Met1236Ile
ENST00000205557.12:c.3708G>A MANE Select	ENSP00000205557.7:p.Met1236Ile
ENST00000640696.1:c.522G>A	ENSP00000492197.1:p.Met174Ile
ENST00000205557.11:c.3708G>A	ENSP00000205557.7:p.Met1236Ile
ENST00000456970.6:c.3333G>A	ENSP00000405002.2:n.3333G>A
ENST00000622290.4:c.*917G>A	ENSP00000483331.1:n.*917G>A
NM_001171.5:c.3708G>A	NP_001162.4:p.Met1236Ile
XM_011522479.1:c.3675G>A	XP_011520781.1:p.Met1225Ile
XM_011522480.1:c.3366G>A	XP_011520782.1:p.Met1122Ile
XM_011522481.1:c.3366G>A	XP_011520783.1:p.Met1122Ile
XR_932836.1:n.3943G>A
XR_932837.1:n.3744G>A
XR_932838.1:n.3744G>A
XR_933134.1:n.539-272C>T
NM_001351800.1:c.3366G>A	NP_001338729.1:p.Met1122Ile
NR_147784.1:n.3370G>A
XM_011522479.2:c.3675G>A	XP_011520781.1:p.Met1225Ile
XM_011522481.3:c.3366G>A	XP_011520783.1:p.Met1122Ile
XM_017023212.1:c.3540G>A	XP_016878701.1:p.Met1180Ile
XM_024450261.1:c.3744G>A	XP_024306029.1:p.Met1248Ile
XR_932836.2:n.3889G>A
XR_932837.3:n.3689G>A
XR_932838.3:n.3689G>A
NM_001171.6:c.3708G>A MANE Select	NP_001162.5:p.Met1236Ile