Canonical Allele Identifier: CA14279139

Gene: ABCC6

Linked Data

• dbSNP Id: rs7190447
• gnomAD v2: 16-16289126-G-C
• gnomAD v3: 16-16195269-G-C
• gnomAD v4: 16-16195269-G-C
• MyVariant Identifiers: chr16:g.16289126G>C (hg19) ; chr16:g.16195269G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16195269G>C , CM000678.2:g.16195269G>C	GRCh38
NC_000016.9:g.16289126G>C , CM000678.1:g.16289126G>C	GRCh37
NC_000016.8:g.16196627G>C	NCBI36
NG_007558.2:g.33203C>G
NG_007558.3:g.33349C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000574094.6:c.1339-454C>G	ENSP00000507301.1:n.1339-454C>G
ENST00000622290.5:c.1339-2347C>G	ENSP00000483331.2:n.1339-2347C>G
ENST00000205557.12:c.1339-2347C>G MANE Select	ENSP00000205557.7:n.1339-2347C>G
ENST00000205557.11:c.1339-2347C>G	ENSP00000205557.7:n.1339-2347C>G
ENST00000456970.6:c.1339-2347C>G	ENSP00000405002.2:n.1339-2347C>G
ENST00000574094.5:n.1435-2347C>G
ENST00000622290.4:c.1339-2347C>G	ENSP00000483331.1:n.1339-2347C>G
NM_001171.5:c.1339-2347C>G	NP_001162.4:n.1339-2347C>G
XM_011522479.1:c.1339-2347C>G	XP_011520781.1:n.1339-2347C>G
XM_011522480.1:c.997-2347C>G	XP_011520782.1:n.997-2347C>G
XM_011522481.1:c.997-2347C>G	XP_011520783.1:n.997-2347C>G
XM_011522482.1:c.1339-2347C>G	XP_011520784.1:n.1339-2347C>G
XR_932836.1:n.1574-2347C>G
XR_932837.1:n.1575-2347C>G
XR_932838.1:n.1575-2347C>G
NM_001351800.1:c.997-2347C>G	NP_001338729.1:n.997-2347C>G
NR_147784.1:n.1376-2347C>G
XM_011522479.2:c.1339-2347C>G	XP_011520781.1:n.1339-2347C>G
XM_011522481.3:c.997-2347C>G	XP_011520783.1:n.997-2347C>G
XM_011522482.3:c.1339-2347C>G	XP_011520784.1:n.1339-2347C>G
XM_017023212.1:c.1339-2347C>G	XP_016878701.1:n.1339-2347C>G
XM_017023214.1:c.1339-2347C>G	XP_016878703.1:n.1339-2347C>G
XM_024450261.1:c.1375-2347C>G	XP_024306029.1:n.1375-2347C>G
XR_932836.2:n.1520-2347C>G
XR_932837.3:n.1520-2347C>G
XR_932838.3:n.1520-2347C>G
NM_001171.6:c.1339-2347C>G MANE Select	NP_001162.5:n.1339-2347C>G