Canonical Allele Identifier: CA7925661

Gene: ABCC6

Linked Data

• dbSNP Id: rs762424228
• ExAC: 16:16259582 C / T
• gnomAD v2: 16-16259582-C-T
• gnomAD v4: 16-16165725-C-T
• MyVariant Identifiers: chr16:g.16259582C>T (hg19) ; chr16:g.16165725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165725C>T , CM000678.2:g.16165725C>T	GRCh38
NC_000016.9:g.16259582C>T , CM000678.1:g.16259582C>T	GRCh37
NC_000016.8:g.16167083C>T	NCBI36
NG_007558.2:g.62747G>A
NG_007558.3:g.62893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3204G>A	ENSP00000483331.2:p.Met1068Ile
ENST00000205557.12:c.3204G>A MANE Select	ENSP00000205557.7:p.Met1068Ile
ENST00000640696.1:c.219G>A	ENSP00000492197.1:p.Met73Ile
ENST00000205557.11:c.3204G>A	ENSP00000205557.7:p.Met1068Ile
ENST00000456970.6:c.3029G>A	ENSP00000405002.2:n.3029G>A
ENST00000622290.4:c.*413G>A	ENSP00000483331.1:n.*413G>A
NM_001171.5:c.3204G>A	NP_001162.4:p.Met1068Ile
XM_011522479.1:c.3171G>A	XP_011520781.1:p.Met1057Ile
XM_011522480.1:c.2862G>A	XP_011520782.1:p.Met954Ile
XM_011522481.1:c.2862G>A	XP_011520783.1:p.Met954Ile
XR_932836.1:n.3439G>A
XR_932837.1:n.3440G>A
XR_932838.1:n.3440G>A
NM_001351800.1:c.2862G>A	NP_001338729.1:p.Met954Ile
NR_147784.1:n.3066G>A
XM_011522479.2:c.3171G>A	XP_011520781.1:p.Met1057Ile
XM_011522481.3:c.2862G>A	XP_011520783.1:p.Met954Ile
XM_017023212.1:c.3036G>A	XP_016878701.1:p.Met1012Ile
XM_017023214.1:c.3204G>A	XP_016878703.1:p.Met1068Ile
XM_024450261.1:c.3240G>A	XP_024306029.1:p.Met1080Ile
XR_932836.2:n.3385G>A
XR_932837.3:n.3385G>A
XR_932838.3:n.3385G>A
NM_001171.6:c.3204G>A MANE Select	NP_001162.5:p.Met1068Ile